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Conference abstracts

ADSP Conference Abstracts

Alzheimer's Association International Conference (AAIC)

AAIC 2022 Abstracts

A full list of the abstracts and their text can be viewed by downloading this document: AAIC 2022 Abstracts.

  • Assessing a Network-Specific Polygenic Risk Score for Alzheimer’s Disease in the Midwestern Amish and Across Diverse Ancestries. Michael D. Osterman1,2, Yeunjoo E. Song1, Nicholas R. Wheeler1, Renee A. Laux1, Larry D. Adams3, Laura J. Caywood3, Michael B. Prough3, Jason E. Clouse3, Sharlene D. Herington3, Susan H. Slifer3, Audrey Lynn1, Jacquelaine Bartlett1, M. Denise Fuzzell1, Sarada L. Fuzzell1, Sherri D. Hochstetler1, Kristy L. Miskimen1, Leighanne R. Main2,4, Daniel A. Dorfsman3,5, Paula Ogrocki6,7, Alan J. Lerner6,7, Jeffery M. Vance3,5, Michael L. Cuccaro3,5, William S. Bush1,2, William K. Scott3,5, Margaret A. Pericak-Vance3,5, Jonathan L. Haines1,2, Alzheimer’s Disease Sequencing Project (ADSP)
    1Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA; 2Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; 3John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; 4Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA; 5Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA; 6Department of Neurology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; 7Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA
  • Mosaic Loss of Chromosome Y in Peripheral Blood Cells and Cognitive Status in the Amish. Yeunjoo E. Song1,2, Kristy L. Miskimen1, Renee A. Laux1, M. Denise Fuzzell1, Sarada L. Fuzzell1, Sherri D. Miller1, Leighanne R. Main2,3, Michael D. Osterman1,2, Audrey Lynn1,2, Michael B. Prough5, Susan H. Slifer5, Larry D. Adams5, Laura J. Caywood5, Jason E. Clouse5, Sharlene D. Herington5, Daniel A. Dorfsman5, Jeffery M. Vance5,6, Michael L. Cuccaro5,6, Paula K. Ogrocki4, Alan J. Lerner4, William K. Scott5,6, Margaret A. Pericak-Vance5,6, William S. Bush1,2, and Jonathan L. Haines1,2,3
    1Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA, USA; 2Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA; 3Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA, USA; 4Brain Health and Memory Center, University Hospital, Cleveland, OH, USA, USA; 5Hussman Institute for Human Genomics, University of Miami School of Medicine, Miami, FL, USA; 6Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
  • Detecting genetic loci for preservation of cognition in the Midwestern United States Amish. Leighanne R Main1,2, Yeunjoo E Song1,2, Renee Laux1, Kristy Miskimen1, Michael L Cuccaro3, Paula Ogrocki4,5, Alan J Lerner4,5, Jeffery M Vance3, M Denise Fuzzell1, Sarada Fuzzell1, Sherri D Hochstetler3, Michael Osterman1,2, Audrey Lynn1, Daniel Dorfsman3, Laura J Caywood3, Michael B Prough3, Larry D Adams3, Jason E Clouse3, Sharlene D Herington3, William K Scott3, Margaret A Pericak-Vance3 and Jonathan L Haines1,2
    1Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland OH, USA; 2Cleveland Institute of Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA;  3John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; 4Department of Neurology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA; 5Department of Neurology, Case Western Reserve University School of Medicine, Cleveland OH, USA
  • Distinct features of rapidly progressive Alzheimer’s disease. Ping Wang1, Audrey Lynn1, Yeunjoo E. Song1,2, Jonathan L. Haines1,2
    1Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland OH, USA; 2Cleveland Institute of Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA
  • Identifying context-specific genetic variants and molecular pathways associated with resilience to Alzheimer’s disease in the induced immune response. Yousef Mustafa 1, 2, Adam C. Naj 3,4, Jennifer E. Below 5, William S. Bush 1.
    1) Cleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, United States; 2) System Biology and Bioinformatics, Department of Nutrition, Case Western Reserve University School of Medicine, Cleveland, OH, United States; 3) Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 4) Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 5) Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Leveraging the use of meta-analysis summary statistics to improve gene expression prediction models. Makaela Mews 1, Adam C. Naj 2,3, Jennifer E. Below 4, William S. Bush 5.
    1) System Biology and Bioinformatics, Department of Nutrition, Case Western Reserve University School of Medicine, Cleveland, OH, United States; 2) Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 3) Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 4) Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; 5) Cleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, United States
  • A Haptoglobin (HP) Exon Deletion Polymorphism Alters the Effect of APOE Alleles on Alzheimer’s Disease in European-Descent People with APOEε4. Haimeng Bai 1,2, Adam C Naj 3, Yuk Yee Leung 4, Li-San Wang 4, Gerald D Schellenberg 4, Richard Mayeux 5, Margaret A Pericak-Vance 6, Lindsay A. Farrer 7, Logan Dumitrescu 8, Timothy J. Hohman 8, Brian W Kunkle 6, Eden R Martin 6, Jonathan L. Haines 1,7  William S. Bush 1,7
    1) Cleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, United States; 2) System Biology and Bioinformatics, Department of Nutrition, Case Western Reserve University School of Medicine, Cleveland, OH, United States; 3) Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 4) Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 5) Department of Neurology, Columbia University, NY; 6) John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL; 7) Departments of Medicine (Biomedical Genetics), Neurology, Ophthalmology, Biostatistics, and Epidemiology, Boston University Schools of Medicine and Public Health, Boston, MA; 8) Vanderbilt Memory & Alzheimer’s Center, Vanderbilt University Medical Center, Nashville, TN, USA
  • Modeling gene expression on the X chromosome in the brain for transcriptome-wide association studies. Xueyi Zhang1, Shengru Guo 2, Adam C. Naj 3, 4 Jennifer E. Below 5, Brian W. Kunkle 2, Logan Dumitrescu 6,  Eden R. Martin 2,7, William S. Bush1,8
    1Department of Population and Quantitative Health Sciences, Case Western Reserve Univ., Cleveland, OH; 2 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; 3) Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 4) Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; 5) Vanderbilt Genetics Institute and Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; 6) Vanderbilt Memory & Alzheimer’s Center, Vanderbilt University Medical Center, Nashville, TN, USA; 7 Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller 8Cleveland Institute for Computational Biology, Case Western Reserve Univ, Cleveland, OH
  • Spatial Distribution of Rare Missense Variants Within Protein Structures is Associated with AD Risk. Bowen Jin1, John A. Capra2, Penelope Benchek3, Nicholas Wheeler3, Adam C. Naj4, Kara L. Hamilton-Nelson5, John J. Farrell6, Yuk Yee Leung 4, Brian Kunkle5,7, Badri Vadarajan8, Gerard D. Schellenberg4, Richard Mayeux8, Li-san Wang4, Lindsay A. Farrer6, Margaret A. Pericak-Vance5,7, Eden R. Martin5,7, Jonathan L. Haines3, Dana C. Crawford3, William S. Bush3*
    1Graduate Program in Systems Biology and Bioinformatics, Department of Nutrition, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, USA; 2The Bakar Computational Health Sciences Institute, Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94143, USA; 3Cleveland Institute for Computational Biology, Department for Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH 44106, USA; 4Department of Pathology and Laboratory Medicine, Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; 5The John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA; 6Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA 02118, USA; 7Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA; 8Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Department of Neurology, Getrude H. Sergievsky Center, Department of Neurology, Columbia University, New York, NY 10032, USA.
  • African-ancestry based polygenic risk scores improve Alzheimer disease risk prediction in individuals of African Ancestry. Bilcag Akgun, Kara L. Hamilton-Nelson, Nicholas A. Kushch, Larry D. Adams, Takiyah D. Starks, Izri M.Martinez Soto, Renee A. Laux, Patrice L. Whitehead, Brian Kunkle, Alzheimer’s Disease Genetic Consortium,Michael L. Cuccaro, Jeffery M. Vance, Christiane Reitz, Goldie S. Byrd, Jonathan L. Haines, Gary W. Beecham,Margaret A. Pericak-Vance, Farid Rajabli.
  • Fine-mapping of chromosome 9p21 linkage in Puerto Rican Alzheimer disease families. Katrina Celis, Farid Rajabli, Shaina A. Simon, Liyong Wang, Kara L. Hamilton-Nelson, Larry D. Adams, Pedro R. Mena, Sergio Tejada, Patrice L. Whitehead, Derek J. Van Booven, Briseida E. Feliciano-Astacio, Angel Chinea, Nereida I. Feliciano, Heriberto Acosta, Clifton L. Dalgard, Jonathan L. Haines, Fulai Jin, Jeffery M. Vance, Michael L. Cuccaro, Gary W. Beecham, Derek M. Dykxhoorn, Anthony J. Griswold, Margaret A. Pericak-Vance.
  • Exploring effect of known Alzheimer disease genetic loci in the Peruvian population. Mario Cornejo-Olivas, MD1,2, Farid Rajabli, PhD3, Nicholas A. Kushch3, Pedro Ramon Mena, MD3, Maryenela Illanes-Manrique, MD1, Larry D. Adams3, Patrice L. Whitehead, BS3, Kara L. Hamilton-Nelson, MPH3, Karina Milla-Neyra, BS1, Victoria Marca, MSc1, Elison Sarapura-Castro, MD1, Carla Manrique- Enciso, B.Sc1, Koni K. Mejía, MD4, Rosario Isasi, JD, MPH3,5, Sheila Castro-Suarez, MD6,7, Ismael Araujo-Aliaga, BS8, Nilton Custodio, PhD, MD9, Rosa Montesinos, MD9, Anthony J. Griswold, PhD3, Clifton L. Dalgard, PhD, CLS10, Gary W. Beecham, PhD3,5, Michael L. Cuccaro, PhD3,5, Jeffery M. Vance, MD, PhD3,5 and Margaret A. Pericak-Vance, PhD3,5,
    (1)Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru, (2)Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru, (3)John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (4)Daniel Alcides Carrion National Hospital, Callao, Peru, (5)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA, (6)CBI en Demencias y Enfermedades Desmielinizantes del Sistema Nervioso, Instituto Nacional de Ciencias Neurológicas, Lima, Peru, (7)Atlantic Senior Fellow for Equity in Brain Health at University of California San Francisco., San Francisco, CA, USA, (8)Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru, (9)Instituto Peruano de Neurociencias, Lima, Peru, (10)Uniformed Services University of the Health Sciences, Bethesda, MD, USA
  • Admixed ancestral composition with Amerindian predominance at the Peruvian Alzheimer Disease Initiative (PeADI). Diana Cubas-Montecino1, Farid Rajabli, PhD2, Maryenela Illanes-Manrique, MD1, Nicholas A. Kushch2, Pedro Ramon Mena, MD2, Patrice L. Whitehead, BS2, Kara L. Hamilton-Nelson, MPH2, Karina Milla- Neyra, BS1, Victoria Marca, MSc1, Elison Sarapura-Castro, MD1, Carla Manrique-Enciso, B.Sc1, Koni K. Mejía, MD3, Rosario Isasi, JD, MPH2,4, Sheila Castro-Suarez, MD5,6, Ismael Araujo-Aliaga1, Nilton Custodio, PhD, MD7, Rosa Montesinos, MD7, Anthony J. Griswold, PhD4, Clifton L. Dalgard, PhD, CLS8, Gary W. Beecham, PhD2,4, Michael L. Cuccaro, PhD2,4, Jeffery M. Vance, MD, PhD2,4, Mario Cornejo- Olivas, MD1,9 and Margaret A. Pericak-Vance, PhD2,4.
    (1)Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru, (2)John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (3)Daniel Alcides Carrion National Hospital, Callao, Peru, (4)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA, (5)CBI en Demencias y Enfermedades Desmielinizantes del Sistema Nervioso, Instituto Nacional de Ciencias Neurológicas, Lima, Peru, (6)Atlantic Senior Fellow for Equity in Brain Health at University of California San Francisco, San Francisco, CA, USA, (7)Instituto Peruano de Neurociencias, Lima, Peru, (8)Uniformed Services University of the Health Sciences, Bethesda, MD, USA, (9)Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru
  • Genomic assessment of early-onset AD identifies novel risk loci and an incomplete genetic overlap with late-onset AD. Eder L. da Fonseca, PhD1, Melissa J. Francois, MPH1, Jiji T. Kurup, PhD2, Chengran Yang, PhD3, Susan H. Slifer, PhD1, Eden R. Martin, PhD1, Brian W. Kunkle, PhD1, Adam Naj, PhD4, Lindsay A. Farrer, PhD5, Jonathan L. Haines, PhD6, Richard P. Mayeux, PhD7, Gerard D. Schellenberg, PhD8, Margaret A. Pericak-Vance, PhD1, Maria V. Fernandez, PhD3, Carlos Cruchaga, PhD3, Christiane Reitz, PhD2, Gary W. Beecham, PhD1, and the Alzheimer Disease Genetics Consortium (ADGC).
    1. University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Miami, FL, USA. 2. Columbia University, The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, The Gertrude H. Sergievsky Center and Departments of Neurology and Epidemiology, New York, NY, USA. 3. Washington University School of Medicine, St. Louis, MO, USA. 4. Department of Biostatistics and Epidemiology/Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. 5. Department of Medicine, Biomedical Genetics, Boston University School of Medicine, Boston, MA, USA. 6. Department of Population & Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA. 7. Departments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA. 8. University of Pennsylvania Perelman School of Medicine, Path & Lab Med, Stellar Chance, Philadelphia, PA, USA.
  • Examining the impact of a rare protein-truncating SORL1 variant on AD pathology. Brooke A. DeRosa1,2,3, Shaina A. Simon1,2,3, Michael L. Cuccaro1,2,3, Holly N. Cukier1,3,4, Jeffery M. Vance1,2,3, Margaret A. Pericak-Vance1,2,3,4, Derek M. Dykxhoorn1,2,3
    1 John P. Hussman Institute for Human Genomics, 2 Dr. John T. MacDonald Foundation Department of Human Genetics, 3 University of Miami Miller School of Medicine, 4 Department of Neurology
  • Association of mitochondrial haplogroups and cognitive impairment in the Amish. Daniel A. Dorfsman1,2, Michael B. Prough, MS2, Laura J. Caywood2, Jason E. Clouse2, Sharlene D. Herington2, Susan H. Slifer, PhD2, Larry D. Adams2, Renee A. Laux, MS3, Yeunjoo E. Song, PhD3, Audrey Lynn, PhD3, M. Denise Fuzzell3, Sarada L. Fuzzell3, Sherri D. Hochstetler3, Kristy L. Miskimen, PhD3, Leighanne R. Main4,5, Michael D. Osterman, MPH3,5, Paula K. Ogrocki, PhD6,7, Alan J. Lerner, MD6,7, Jeffery M. Vance, MD, PhD1,2, Michael L. Cuccaro, PhD1,2, Jonathan L. Haines, PhD8,9, Margaret A. Pericak-Vance, PhD1,2 and William K. Scott, PhD1,2,
    (1)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (3)Department of Population and Quantitative Health Sciences, Case Western ReserveUniversity, Cleveland, OH, USA, (4)Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA, (5)Cleveland Institute for Computational Biology, Case Western Reserve University,Cleveland, OH, USA, (6)University Hospitals Cleveland Medical Center, Cleveland, OH, USA, (7)Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA, (8)Cleveland Institute forComputational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA, (9)Department of Population and Quantitative Health Sciences, Case WesternReserve University School of Medicine, Cleveland, OH, USA
  • The Relationship of Alzheimer's Disease, Stroke and Ancestry in the Puerto Rican Alzheimer Disease Population. Briseida E. Feliciano-Astacio, MD1•2, Gary W. Beecham, PhD3,4,5,6, Kara L. Hamilton-Nelson, MPH3•5•7, Concepcion Silva-Vergara, MBA2, Maricarmen Contreras, BA5, Pedro Ramon Mena, MD4,5, Larry D. Adams3,5,?,B,9,10, Heriberto Acosta, MD11, Nereida I Feliciano, MD12, Alexandra Lopez, BSN2, Michael L. Cuccaro, PhD3,4,5,?,B,13, Jeffery M. Vance, MD, PhD3·4·5·7•8·14 and Margaret A. Pericak-Vance, PhD4,5,7,15, (1)Briseida Feliciano, MD, APO Caguas, PR, USA,
  • Alzheimer Disease candidate variants are associated with cerebral amyloid angiopathy. Dana Godrich1, Jeremy Pasteris1, Eden R. Martin1,2, Gerard Schellenberg3, Margaret A. Pericak-Vance1,2, Michael Cuccaro1,2, William K. Scott1,2, Walter Kukull4, Thomas Montine5, Gary W. Beecham1,2, and the Alzheimer Disease Genetics Consortium.
    1. Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA2. John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA 3. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA 4. Department of Epidemiology, University of Washington, Seattle, WA, USA5. Department of Pathology, Stanford University, Stanford, CA, USA
  • Analysis of Alzheimer Disease Plasma Biomarker pTau-181 in Individuals of Diverse Admixed Ancestral Backgrounds. Anthony J. Griswold1,2, Farid Rajabli1, Catherine Garcia-Serje1, Jamie Arvizu1, Emma Larkin-Gero1, Patrice L. Whitehead1, Kara L. Hamilton-Nelson1, Larry D. Adams1, Maricarmen Contreras1, Jose Javier Sanchez1, Sergio Tejada1, Pedro R. Mena1, Takiyah Starks3, Mario R Cornejo-Olivas4, Maryenela Illanes-Manrique4, Concepcion Silva5, Michael L. Cuccaro1,2, Jeffery M. Vance1,2, Briseida E. Feliciano-Astacio5, Goldie S. Byrd3, Gary W. Beecham1,2, Jonathan L. Haines6,7, and Margaret A. Pericak-Vance1,2
    1) John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL; 2) Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL; 3) Maya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC; 4) Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; 5) Department of Internal Medicine, Universidad Central Del Caribe, Puerto Rico; 6) Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH; 7) Cleveland Institute for Computational Biology, Cleveland, OH
  • Transcriptomic Analysis of Whole Blood in Admixed Latinx Alzheimer Disease Cohorts. Anthony J. Griswold1,2, Tianjie Gu1, Derek Van Booven1, Patrice L. Whitehead1, Kara L. Hamilton-Nelson1, Maricarmen Contreras1, Jose Javier Sanchez1, Sergio Tejada1, Larry D. Adams1, Pedro R. Mena1, Concepcion Silva3, Mario R Cornejo-Olivas4, Maryenela Illanes-Manrique4, Michael L. Cuccaro1,2, Jeffery M. Vance1,2, Briseida E. Feliciano-Astacio3, William S. Bush5,6, Gary W. Beecham1,2, and Margaret A. Pericak-Vance1,2
    1) John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL; 2) Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL; 3) Department of Internal Medicine, Universidad Central Del Caribe, Puerto Rico; 4) Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; 5) Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH; 6) Cleveland Institute for Computational Biology, Cleveland, OH;
  • Ancestral Analysis of the Presenilin-1 G206A Variant Reveals it as a Founder Event on an African Haplotype in the Puerto Rican Population. Kara L. Hamilton-Nelson1, Anthony J. Griswold1,2, Farid Rajabli1, Patrice L. Whitehead1, Maricarmen Contreras1, Sergio Tejada1, Pedro R. Mena1, Jose Javier Sanchez1, Larry D. Adams1, Takiyah D. Starks3, Concepcion Silva4, Michael L. Cuccaro1,2, Jeffery M. Vance1,2, Goldie S. Byrd3, Jonathan L. Haines5,6, Gary W. Beecham1,2, Briseida E. Feliciano-Astacio4, and Margaret A. Pericak-Vance1,2
    1) John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL; 2) Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL; 3) Maya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC; 4) Department of Internal Medicine, Universidad Central Del Caribe, Puerto Rico; 5) Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH; 6) Cleveland Institute for Computational Biology, Cleveland, OH.
  • Diverse Ancestral Populations and the Alzheimer’s Disease Sequencing Project (ADSP). Brian W. Kunkle, PhD, MPH1,2 for the Alzheimer’s Disease Sequencing Project (ADSP)
    (1) John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA (2) Dr. John T. MacDonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
  • Characterization of a diverse Frontotemporal Dementia cohort, enriched for Caribbean Hispanic patients. Anisley Martinez, Farid Rajabli, Esther Gu, Sergio Tejada, Erika Negro, Humberto Acosta, Baumel, Camargo, Sun, Jeff Vance, Mike Cuccaro, Margaret Pericak-Vance, Karen Nuytemans.
  • The Alzheimer’s Disease Sequencing Project Follow Up Study (ADSP-FUS): increasing ethnic diversity in Alzheimer’s disease (AD) genetics research. Pedro Ramon Mena, MD1, Brian W. Kunkle, PhD, MPH1, Kelley M. Faber, MS2,3, Larry D. Adams1, Jovita D.Inciute4, Patrice L. Whitehead, BS1, Tatiana M. Foroud, PhD2,3, Dolly Reyes-Dumeyer, BS5, Amanda B Kuzma, MS6, Yuk Yee Leung, PhD6, Adam C Naj, PhD6, Eden R. Martin, PhD1, Clifton L. Dalgard, PhD, CLS7, Gerard D. Schellenberg, PhD6, Li-San Wang, PhD6, Richard Mayeux, MD5, Badri N. Vardarajan, PhD8, Jeffery M. Vance, MD, PhD1, Michael L. Cuccaro, PhD1 and Margaret A. Pericak-Vance, PhD1.
    (1)John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (2)Indiana University School of Medicine, Indianapolis, IN, USA, (3)National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), Indianapolis, IN, USA, (4)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (5)Columbia University Irving Medical Center, New York, NY, USA, (6)University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (7)Uniformed Services University of the Health Sciences, Bethesda, MD, USA, (8)G.H. Sergievsky Center, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, US
  • Characterization of chromosome 5q35 risk locus in African Ancestry population. Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Larry D. Adams, Takiyah D. Starks, Patrice L. Whitehead, Brian W. Kunkle, Allison Caban-Holt, The NIA-LOAD Family-Based Study, Mike L. Cuccaro, Jeffery M. Vance, Jonathan L. Haines, Christiane Reitz, Goldie S. Byrd, Gary W. Beecham, Margaret A. Pericak-Vance
  • A Novel Protective locus significantly reduces the ApoE ε4 risk for Alzheimer’s Disease in African Ancestry. Marina Lipkin-Vasquez1, Farid Rajabli1, Gary W. Beecham1,2 ,Hugh C. Hendrie3, Olusegun Baiyewu4, Adesola Ogunniyi4, Sujuan Gao5, Nicholas A. Kushch1, Kara L. Hamilton-Nelson1, Juan Young1,2, Derek M. Dykxhoorn1,2, Karen Nuytemans1,2, Brian W. Kunkle1,2, Liyong Wang1,2, Fulai Jin6 , Xiaoxiao Liu6, Briseida E. Feliciano-Astacio7, Alzheimer’s Disease Sequencing Project, Alzheimer’s Disease Genetic Consortium, Clifton L. Dalgard8, Anthony J. Griswold1,2, Goldie S Bird9, Christiane Reitz10, Jonathan L. Haines11, Margaret A. Pericak-Vance1,2, Jeffery M. Vance1,2.
    John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN, USA College of Medicine, University of Ibadan, Ibadan, Nigeria Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA Universidad Central del Caribe, Bayamón, PR, USA Uniformed Services University of the Health Sciences, Bethesda, MD, USA Maya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC, USA Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians
  • The Peruvian Alzheimer Disease Initiative (PeADI): An international effort model to increase diversity in AD research. Maryenela Illanes-Manrique, MD1, Pedro Ramon Mena, MD2, Karina Milla-Neyra, BS1, Larry D. Adams2,Koni K. Mejía, MD3, Julia Rios-Pinto, MSc1,4, Rosario Isasi, JD, MPH2,5, Angel Medina-Colque, PhD1,6,Gary W. Beecham, PhD2,5, Ivan Cornejo-Herrera, MD1,7,8, Jeffery M. Vance, MD, PhD2,5, Edward Ochoa-Valle, MD1,9, Sheila Castro-Suarez, MD10,11, Michael L. Cuccaro, PhD2,5, Elison Sarapura-Castro, MD1,Mario Cornejo-Olivas, MD1,12 and Margaret A. Pericak-Vance, PhD2,5.
    (1)Neurogenetics Research Center,Instituto Nacional de Ciencias Neurológicas, Lima, Peru, (2)John P. Hussman Institute for HumanGenomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (3)Daniel Alcides CarrionNational Hospital, Callao, Peru, (4)Universidad Peruana Los Andes, Huancayo, Peru, (5)Dr. John T.Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine,Miami, FL, USA, (6)Dirección Regional de Salud de Puno, Puno, Peru, (7)Hospital Hipolito de Tacna,Tacna, Peru, (8)Universidad Privada de Tacna, Tacna, Peru, (9)Hospital Regional de Cusco, Cusco, Peru,(10)Atlantic Senior Fellow for Equity in Brain Health at University of California San Francisco., SanFrancisco, CA, USA, (11)CBI en Demencias y Enfermedades Desmielinizantes del Sistema Nervioso,Instituto Nacional de Ciencias Neurológicas, Lima, Peru, (12)Center for Global Health, UniversidadPeruana Cayetano Heredia, Lima, Peru.
  • Intragenic loci within TOMM40 enhances APOE expression in human microglia. Oded Oron, PhD1, Aura Maria Ramirez, PhD1, Liyong Wang, Ph.D.1,2, Marina Lipkin Vasquez, PhD1, BrookeA DeRosa, PhD1, Katrina Celis, MD1, Alessandra Chesi, PhD3,4, Struan F.A. Grant, PhD3,4, Juan Young, PhD1,5, Karen Nuytemans, Ph.D.1,2, Jeffery M. Vance, MD, PhD1,2,5,6 and Derek M. Dykxhoorn, Ph.D.1,2.
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA, (3)University of Pennsylvania, Philadelphia, PA, USA, (4)The Children’s Hospital of Philadelphia, Philadelphia, PA, USA, (5)University of Miami Miller School of Medicine, Miami, FL, USA, (6)Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA
  • Plasma pTau181 is associated with impaired cognition in the Old Order Amish and adds additional information beyond the known genetic risk factors for AD. Michael B. Prough1, Laura J. Caywood1, Jason E. Clouse1, Sharlene D. Herington1, Susan H. Slifer1, Daniel A. Dorfsman1, Larry D. Adams1, Reneé A. Laux2, Yeunjoo E. Song2, Audrey Lynn2, M. Denise Fuzzell2, Sarada L. Fuzzell2, Sherri D. Hochstetler2, Kristy Miskimen2, Leighanne R. Main3,4, Michael D. Osterman2,4, Paula Ogrocki5,6, Alan J. Lerner5,6, Jeffery M. Vance1,7, Michael L. Cuccaro1,7, Jonathan L. Haines2,4, William K. Scott1,7, Margaret A. Pericak-Vance1,7
    (1) John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA (2) Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA (3) Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA (4) Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA (5) Department of Neurology, University Hospitals Cleveland Medical Center, Cleveland, OH, USA (6) Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA (7) The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
  • Using Oligodendrocytes for studies in Alzheimer disease. Aura M. Ramirez, Jihanne Shepherd, Shaina Simmon, Oded Oron, Marina Lipkin, Sofia Moura, Maria Muniz, Farid Rajabli, Liyong Wang, Xiaoxiao Liu, Fulai Jin, Brian Kunkle, Karen Nuytemans, Anthony Griswold, Juan Young, Derek M. Dykxhoorn, Jeffery M. Vance.
  • Sex-specific DNA methylation differences associated with Alzheimer’s disease. Juan I. Young, Achintya Varma, Lisette Gomez, Hannah Dykxhoorn, Brian Kunkle, Lily Wang, Eden R. Martin
  • Harnessing Chromatin 3D interactions to Understand Ancestry-Specific Alzheimer Disease (AD) risk. Liyong Wang, Ph.D.1,2, Xiaoxiao Liu3, Oded Oron, PhD1, Wanying Xu3, Jack Trittipo1, Farid Rajabli, PhD1, Derek M. Dykxhoorn, Ph.D.1,2, Anthony J. Griswold, PhD1,2, Margaret A. Pericak-Vance, PhD1,2, Juan Young, PhD1,2, Fulai Jin, PhD3,4 and Jeffery M. Vance, MD, PhD1,2
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA, (3)Case Western Reserve University, School of Medicine, Cleveland, OH, USA, (4)4. Department of Computer and Data Sciences, Case Western Reserve University, Celveland, OH, USA
  • Depressive Symptoms Associated with an Earlier Age at Onset Differ as a Function of Race-Ethnicity: An Exploratory Analysis. Andrew Zaman, PhD1, Pedro Ramon Mena, MD2, Larry D. Adams1, Maricarmen Contreras, BA1, Faina C Lacroix, MPH1, Sergio Tejada, MD1, Takiyah D. Starks, BS, MS1, Briseida E. Feliciano-Astacio, MD3, Concepcion Silva, MBA3, Allison M Caban-Holt, PhD4, Goldie S. Byrd, PhD4, Izri Martinez, MD5, Temitope Ayodele, BS5, Penelope Baez5, Gabrielle Blackshire6, Sara Kennedy, PhD6, Christiane Reitz, PhD, MD7, Jonathan L. Haines, PhD8,9, Jeffery M. Vance, MD, PhD1, Margaret A. Vance, PhD1 and Michael L. Cuccaro, PhD1.
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (3)Universidad Central del Caribe, Bayamon, PR, USA, (4)Maya Angelou Center for Health Equity, Wake Forest School of Medicine, Winston-Salem, NC, USA, (5)Columbia University, New York, NY, USA, (6)Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA, (7)Columbia University, The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, The Gertrude H. Sergievsky Center and Departments of Neurology and Epidemiology, New York, NY, USA, (8)Cleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA, (9)Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA
  • Novel circling SWAT for deep learning based diagnostic classification of Alzheimer’s disease: Application to metabolome data. Taeho Jo, Junpyo Kim, Paula Bice, Kevin Huynh, Tingting Wang, Peter J. Meikle, Rima Kaddurah-Daouk, Kwangsik Nho* and Andrew J. Saykin*, for the Alzheimer's Disease Neuroimaging Initiative (ADNI), Alzheimer's Disease Metabolomics Consortium (ADMC) and AI4AD Consortium
  • Genome-wide meta-analysis employing the African Genome Resources panel identifies novel Alzheimer disease risk loci in African-Americans. Jiji T. Kurup, MSc1, Brian W. Kunkle, PhD2, Kara Hamilton-Nelson, MPH2, Melissa Jean-Fancois, MPH2, Michael Schmidt, PhD2, Alzheimer’s Disease Genetics Consortium, Eden R. Martin, PhD2, Li-San Wang, PhD7, Gary W. Beecham, PhD2, Lindsay A. Farrer, PhD3, Jonathan L. Haines, PhD4, Goldie S. Byrd, PhD5, Gerard D. Schellenberg, PhD6, Richard Mayeux, MD, MSc1, Margaret A. Pericak-Vance, PhD2, Christiane Reitz, MD, PhD1
  • No added value of Sex and APOE*4 stratification for Alzheimer’s Disease Genetic Risk Scores. Michael E. Belloy1, Yann Le Guen1, Michael D. Greicius1, and Andre Altmann2
    1Department of Neurology and Neurological Sciences, Greicius Lab, Stanford University, Stanford, CA, 94305, USA, 2Centre for Medical Image Computing (CMIC), University College London, London, UK.
  • Association Analysis on Alzheimer's Disease Sequencing Project (ADSP) 16,905 Whole-Genome Sequence Data. Wan-Ping Lee, PhD1,2, Gina M Peloso, PhD3, Achilleas N Pitsillides, PhD3, Nancy Heard-Costa, PhD4,5, Hui Wang, PhD1·2, Yuk Yee Leung, PhD1·6, Jonathan L. Haines, PhD7·8, Anita L. Destefano, PhD3·4 and Collaboration on Alzheimer's Disease Research (CADRE), and The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE)
  • Multi-Ancestry Genome-wide Association Analysis of Late-Onset Alzheimer’s Disease (LOAD) in 60,941 Individuals Identifies a Novel Cross-Ancestry Association in LRRC4C. Adam C. Naj, PhD1,2, Christiane Reitz, PhD, MD3,4, Farid Rajabli, PhD5, Gyungah R. Jun, PhD6,7, PenelopeBenchek, PhD8, Giuseppe Tosto, MD, PhD3,4, Jin Sha, MS1, Congcong Zhu, MS6, Nicholas A. Kushch5, Wan-Ping Lee, PhD2,9, Jacob Haut, BS1, Kara L. Hamilton-Nelson, MPH5,10, Nicholas R. Wheeler, PhD8, Yi Zhao, MS2, John Farrell, PhD6, Jaeyoon Chung, PhD6, Michelle Grunin, PhD8, Yuk Yee Leung, PhD2,9,Donghe Li, PhD6, Eder Lucio da Fonseca, PhD5, Jesse B. Mez, MD, MS6,11, Ellen L Palmer, PhD8, Jagan A. Pillai, MD, PhD12,13, Richard Sherva, PhD6,14, Yeunjoo E. Song, PhD8, Xiaoling Zhang, PhD6,7, Taha Iqbal, MS1, Omkar Pathak, MS2, Otto Valladares, MS2,9, Amanda B. Kuzma, MS2,9, Brian W. Kunkle, PhD, MPH5,10, William S. Bush, PhD8, Li-San Wang, PhD2,9, Lindsay A. Farrer, PhD6,7, Jonathan L. Haines, PhD8, Richard Mayeux, PhD, MD3,4, Margaret A. Pericak-Vance, PhD5,10, and Gerard D. Schellenberg, PhD2 for the Alzheimer's Disease Genetics Consortium (ADGC)
  • Novel Loci for Alzheimer Disease Identified by Genome Wide Association Study in Ashkenazi Jews. Donghe Li1, John J Farrell1, Jesse Mez2, Eden R. Martin6,7, William S. Bush9, Richard Mayeux10, Jonathan L. Haines9, Margaret A. Pericak Vance6-8, Li-San Wang11, Gerard D. Schellenberg11, Kathryn L. Lunetta4, Lindsay A. Farrer1-5
  • Multiple Viruses Detected in Human DNA are Associated with Alzheimer Disease Risk. Marlene Tejeda1, John Farrell1, Congcong Zhu1, Lee Wetzler2,3, Kathryn L. Lunetta4, William S. Bush5, Eden R. Martin6, Li-San Wang7, Gerard Schellenberg7, Margaret A. Pericak-Vance6, Jonathan L. Haines5, Lindsay A. Farrer1,4, Richard Sherva1
  • Variants near X-Chromosome Genes NLGN4X and PTCHD1 are Significantly Associated with Alzheimer’s Disease Risk. Jaeyoon Chung1, Xinyu Sun1, Mike Schmidt6, Yeunjoo E. Song7,8, Michelle Grunin7, Ellen Palmer7, William Bush7, Adam C Naj9, Farid Rajabli6, Kara L Hamilton-Nelson6, Xiaoling Zhang1,4, Yuk Yee Leung9, Li-San Wang9, Richard Mayeux10, Gerald D Schellenberg9, Margaret A Pericak-Vance6, Jonathan L. Haines7,8, Lindsay A. Farrer1-5, Brian W Kunkle6, Eden R Martin6
  • Identification of Genetic Variants and Serum Metabolites Associated with Blood-derived Mitochondrial DNA Copy Number. Tong Tong1,2, John J. Farrell2, Congcong Zhu2, Zainab Khurshid1,2, Eden R. Martin3, William Bush4, Margaret A. Pericak-Vance3, Li-San Wang5, Gerard Schellenberg5, Jonathan L. Haines4, Kathryn L. Lunetta6, Lindsay A. Farrer1,2,6, and Xiaoling Zhang1,2,6 on behalf of the Alzheimer’s Disease Sequencing Project (ADSP)
  • Association of short tandem repeats with neuropathological features in late-onset of Alzheimer’s disease brains. Annie J. Lee1,2, Hans Ulrich-Klein3,7 Julie A. Schneider4,5,6, David A. Bennett4,5, Philip L. De Jager1,2,3,7, Giuseppe Narzisi8, Mike Zody8, Badri N. Vardarajan1,2,3
  • APOE missense variant R145C is associated with increased Alzheimer’s disease risk in African ancestry individuals with the APOE ε3/ε4 genotype. Yann Le Guen1,2, PhD, Ana-Caroline Raulin3, PhD, Mark W. Logue, PhD4,5,6,7,  Richard Sherva, PhD6, Michael E. Belloy1, PhD, Sarah J. Eger1, BA, Annabel Chen1, BSc, Gabriel Kennedy1, BSc, Lindsey Kuchenbecker3, BSc, Justin P. O’Leary3, BSc, Rui Zhang, MS4,  Victoria C. Merritt, PhD8,9,10, Matthew S. Panizzon, PhD9,11,12, Richard L. Hauger, MD8,9,11, Michael J. Gaziano MD12,13, Guojun Bu3, PhD, Timothy A. Thornton14, PhD, Lindsay A. Farrer6, PhD, Valerio Napolioni15, PhD, Zihuai He1,16, PhD, and Michael D. Greicius1, MD, MPH
  • ADSP Functional Genomics: from gene, to function to mechanisms and targets. Carlos Cruchaga, on behalf of the ADSP Functional Genomics Consortium
  • Pleiotropic effect of LRRK2 on Parkinson-associated proteins and processing of pathological alpha-synuclein in myeloid cells. Niko-Petteri Nykänen1,2,3, Chengran Yang1,2,3, Oscar Harari1,2,3, Albert A. Davis3,4, Carlos Cruchaga1,2,3, PPMI consortium and Bruno A. Benitez1,2,3,5
    1Washington University School of Medicine, Department of Psychiatry, St. Louis, MO,USA, 2Washington University School of Medicine, NeuroGenomics and Informatics Center, St. Louis, MO, USA, 3Washington University School of Medicine, Hope Center for Neurological Disorders, St. Louis, MO, USA, 4Washington University School of Medicine, Department of Neurology, St. Louis, MO, USA, 5Current affiliation: Harvard Medical School, Beth Israel Deaconess Medical Center, Department of Neurology, Boston, MA. USA
  • Comparative analysis of CSF biomarker measurement in Alzheimer’s disease by multiplex SOMAscan platform and immunoassay-based ELISA approach. Jigyasha Timsina1,2, Duber Gomez-Fonseca1,2, Fengxian Wang1,2, Lihua Wang1,2, Agustin Ruiz3,4, Ignacio Alvarez5, Miquel Aguilar5, Pau Pastor5, Yun Ju Sung1,2,6, Carlos Cruchaga1,2,7
    1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA 2NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA 3Research Center and Memory Clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain, 4Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. 5Memory Disorders Unit, Department of Neurology, University Hospital Mutua Terrassa, Terrassa, Spain. 6Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA. 7Hope Center for Neurologic Diseases, Washington University, St. Louis, MO, USA
  • CSF proteo-genomic studies identify an interaction between LRRK2 genetic variants and GRN, GPNMB, CTSB, and ENTPD1. Lihua Wang1,2, Chengran Yang1,2, Samira Mafi Moghaddam1,2, Jigyasha Timsina1,2, Priyanka Gorijala1,2, Fengxian Wang1,2, Ignacio Alvarez3, Miiquel Aguilar3, Agustin Ruiz4,5, Pau Pastor4,5, Yun Ju Sung1,2,6, Carlos Cruchaga1,2,7
    1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA. 2NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA. 3Memory Disorders Unit, Department of Neurology, University Hospital Mutua Terrassa, Terrassa, Spain. 4Research Center and Memory Clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain. 5Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. 6Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA. 7Hope Center for Neurologic Diseases, Washington University, St. Louis, MO, USA.
  • Large-scale pQTL analysis of over 3,000 CSF samples. Daniel Western1,2, Jigyasha Timsina1,2, Lihua Wang1,2, Ciyang Wang1,2, Agustin Ruiz, Pau Pastor, Yun Ju Sung1,2,3, Carlos Cruchaga1,2,4 1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA. 2NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA. 3Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA. 4Hope Center for Neurologic Diseases, Washington University, St. Louis, MO, US
  • Identification of novel genetic variants and biomarkers for cognitive decline in Alzheimer's disease. Muhammad Ali, PhD1,2, Fengxian Wang, PhD1,3, Samira Mafimoghaddam, PhD1,2, Jack Euesden, PhD4, Chloe Robins, PhD4, David J. Pulford, PhD4 and Carlos Cruchaga, PhD1,2,3,5, (1)Washington University in St. Louis School of Medicine, St. Louis, MO, USA, (2)NeuroGenomics and Informatics Center, St. Louis, MO,USA, (3)Hope Center for Neurological Disorders, St. Louis, MO, USA, (4)GlaxoSmithKline Medicines R&D, Stevenage, SG1 2NY, UK, Hertfordshire, United Kingdom, (5)Knight Alzheimer Disease Research Center, Saint Louis, MO, USA.
  • Sex-specific molecular profiling to understand pathology and identify causal genes and drug targets for Alzheimer’s disease. Yun J Sung, PhD1, Anh Do, PhD1, Jigyasha Timsina, MS2, Lihua Wang, PhD3, Fengxian Wang, PhD2 and Carlos Cruchaga, PhD2,4.
    (1)Washington University School of Medicine, St Louis, MO, USA,(2)NeuroGenomics and Informatics Center, St. Louis, MO, USA, (3)Department of Psychiatry, Saint Louis, MO, USA, (4)Hope Center for Neurological Disorders, St. Louis, MO, USA
  • Identification of genetic regulators of human metabolites in CSF. Ciyang Wang1, Samira Mafimoghaddam, PhD2,3, Brenna C Novotny, MS2,4, Yun J Sung, PhD5,6,7, Fabiana H.G. Farias, PhD8,9, Chengran Yang, PhD7,10,11, Fengxian Wang, PhD2,3,12, Marta Marquié, MD, PhD13,14, Mercè Boada, MD, PhD13,15, Itziar de Rojas, MSc13,15, Ignacio Alvarez, MSc13,15, Miquel Aguilar, Msc15,16, Victoria Fernandez, PhD11,17,18, Oscar Harari, PhD2,4,12 and Carlos Cruchaga, PhD2,3,12,17,19
    (1)Division of Biology and Biomedical Sciences, Washington University in St. Louis, St. Louis, MO, USA, (2)NeuroGenomics and Informatics Center, St. Louis, MO, USA, (3)Washington University in St. Louis School of Medicine, St. Louis, MO, USA, (4)Washington University School of Medicine, St. Louis, MO, USA, (5)Washington University in St. Louis School of Medicine, St Louis, MO, USA, (6)Neurogenomics and Informatics Center, St. Louis, MO, USA, (7)Hope Center for Neurological Disorders, St Louis, MO, USA, (8)Washington University School of Medicine in St. Louis, St. Louis, MO, USA, (9)Hope Center for Neurological Disorders, Washington University, St Louis, MO, USA, (10)NeuroGenomics and Informatics Center, St Louis, MO, USA, (11)Washington University School of Medicine, St Louis, MO, USA, (12)Hope Center for Neurological Disorders, St. Louis, MO, USA, (13)Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain, (14)Research Center and Memory Clinic. Ace Alzheimer Center Barcelona. Universitat Internacional de Catalunya, Barcelona, Spain, (15)Research Center and Memory Clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain, (16)Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Barcelona, Spain, (17)Hope Center for Neurological Disorders, Saint Louis, MO, USA, (18)NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA, (19)Knight Alzheimer Disease Research Center, Saint Louis, MO, USA
  • Genome-Wide Association Study for CSF Aβ42, Tau, and pTau in a Large Multi-cohort Study to Identify Novel AD Genetic Variants. Duber Gomez-Fonseca1,2 , Yun Ju Sung1,2, Fengxian Wang1,2, Anne M. Fagan4,5, Kaj Blennow6,7, Henrik Zetterberg6,7,8,9, Amanda Heslegrave8,9, Per M Johansson8,9,10, Johan Svensson11, Bengt Nellgård10, Alberto Lleó12, Daniel Alcolea12, Jordi Clarimon12, Lorena Rami13, José Luis Molinuevo13,14,15, Marc Suárez-Calvet15,16,17, Estrella Morenas-Rodríguez16,17,20, Gernot Kleinberger16,18, Christian Haass16,17,18, Michael Ewers19, Carlos Cruchaga1,2,3,4,5,*
    1 Department of Psychiatry, Washington University, St. Louis, MO 63110, 2 NeuroGenomics and Informatics. Washington University, St. Louis, MO 63110, 3 Hope Center for Neurologic Diseases, Washington University, St. Louis, MO 63110, 4 Department of Neurology, Washington University School of Medicine, St Louis, Missouri, USA. 5 Knight Alzheimer Disease Research Center, Washington University School of Medicine, St Louis, Missouri, USA. 6 Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden. 7 Clinical Neurochemistry Laboratory, Department of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska University Hospital, Mölndal, Sweden. 8 Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK. 9 UK Dementia Research Institute at UCL, London, UK. 10 Department of Anesthesiology and Intensive Care Medicine, Sahlgrenska University. Hospital, Mölndal, Sweden and Institute of Clinical Sciences, the Sahlgrenska Academy at the University of Gothenburg, Sweden. 11 Department of Internal Medicine, Institute of Medicine, the Sahlgrenska Academy at the University of Gothenburg, Göteborg, Sweden. 12 Neurology Dept. Hospital de Sant Pau. Sant Antoni Mª Claret 167. Barcelona 08025. Spain. 13 IDIBAPS. Alzheimer´s disease and other cognitive disorders unit, Neurology Service, ICN Hospital Clinic. 14 Alzheimer´s disease and other cognitive disorders unit, Neurology Service, ICN Hospital Clinic i Universitari. 15 BarcelonaBeta Brain Research Center, Pasqual Maragall Foundation. Barcelona, Spain.
  • Use of the human reference genome 38 enhances integration of the multi-tissue proteomics with genetics and disease. Heng Yi, MS1,2, Qijun Yang1,2, Jigyasha Timsina, MS1,2, Fengxian Wang, PhD1,2, Lihua Wang, PhD1,2, Carlos Cruchaga, PhD1,2,3 and Yun Ju Sung, PhD1,2,
    (1)Washington University in St. Louis School of Medicine, St. Louis, MO, USA, (2)NeuroGenomics and Informatics Center, St. Louis, MO, USA, (3)Hope Center for Neurological Disorders, St. Louis, MO, USA
  • A large-scale genome-wide association study of early-onset Alzheimer disease. Achal Neupane, PhD1,2;  Eder Lucio da Fonseca, PhD4; Jiji Thulaseedhara Kurup, PhD7; Margaret A. Pericak-Vance, PhD3,4; Eden R. Martin, PhD3,4; Gerard D. Schellenberg, PhD5; Christiane Reitz, MD PhD6,7; Gary W. Beecham, PhD 3,4; Carlos Cruchaga, PhD1,2; and Victoria Fernandez, PhD1,2
  • GWAS for CSF TREM2 levels identify new variants implicated on TREM2 biology and Alzheimer disease. Samira Mafimoghaddam, PhD1,2, Lihua Wang, PhD1,2, Priyanka Gorijala, Msc1,2, Jigyasha Timsina, Msc1,2, Niko Nykanen, PhD1,2, Fengxian Wang, PhD1,2, Marta Marquié, MD, PhD3,4, Mercè Boada, MD, PhD3,4, Ignacio Alvarez, MSc5, Miquel Aguilar, Msc5, Pau Pastor, MD, PhD5, Agustín Ruiz, MD, PhD3,4, Yun Ju Sung, PhD1,2 and Carlos Cruchaga, PhD1,2,6.
    (1)NeuroGenomics and Informatics Center, St. Louis, MO, USA, (2)Washington University in St. Louis School of Medicine, St. Louis, MO, USA, (3)Networking Research Center on Neurodegenerative Disease (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain, (4)Research Center and Memory Clinic, Fundació ACE Institut Català de Neurociències Aplicades - Universitat Internacional de Catalunya (UIC), Barcelona, Spain, (5)Memory Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Terrassa, Spain, (6)Hope Center for Neurological Disorders, St. Louis, MO, USA
  • Genetic architecture of plasma Alzheimer disease biomarkers. Joseph Bradley, Priyanka Gorijala, Suzanne E. Schindler, Yun Ju Sung, Samira Mafimoghaddam, Fengxian Wang, Carlos Cruchaga
  • GWAS of Genetic Resilience  to Age-Related Risk for Alzheimer’s Disease in Admixed African Ancestry Individuals. Michael  E.  Belloy1,  Yann  Le  Guen1, Sarah  J.  Eger1,Valerio  Napolioni2, Zihuai  He1-3, Elizabeth Mormino1,andMichael D. Greicius1,for the Alzheimer’s Disease Neuroimaging Initiative.
    1Department of Neurology and Neurological Sciences, GreiciusLab, Stanford University, Stanford, CA, 94305, USA2School of Biosciences and Veterinary Medicine, University of Camerino, Camerino, 62032, Italy3Quantitative Sciences Unit, Department of Medicine, Stanford University, Stanford, CA, 94304, USA
  • Overlap of genetic risk for Lewy body and Alzheimer’s diseasepathology. Seth Talyansky1, Yann Le Guen1,2, PhD, Kaitlyn Pham1, Michael E. Belloy1, PhD,Nandita Kasireddy1, Michael D. Greicius1, MD, MPH
    1Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA2Institut du Cerveau - Paris Brain Institute - ICM, Paris, France
  • Sex-specific genetic predictors of memory, executive function, and language performance. Jaclyn M. Eissman, BS1,2, Alexandra N. Smith, MS1,2, Shubhabrata Mukherjee, PhD, MS3, Michael L. Lee, PhD, MPH3, Seo-Eun Choi, PhD3, Phoebe Scollard, MA3, Emily H. Trittschuh, PhD4, Jesse B. Mez, MD, MS5, William S. Bush, PhD6, Corinne D Engelman, MSPH, PhD7, Qiongshi Lu, PhD7, David W. Fardo, PhD8,9, Keith F. Widaman, PhD10, Rachel F. Buckley, PhD11,12,13, Elizabeth C. Mormino, PhD14, Brian W. Kunkle, PhD, MPH15, Adam C. Naj, PhD16,17, Lindsay R. Clark, PhD7, Katherine A. Gifford, PsyD1, Alzheimer’s Disease Neuroimaging Initiative (ADNI)18, Alzheimer’s Disease Genetics Consortium (ADGC)19, A4 Study Team20, The Alzheimer's Disease Sequencing Project (ADSP)19, Michael L. Cuccaro, PhD15, Carlos Cruchaga, PhD21, Margaret A. Pericak-Vance, PhD15, Lindsay A. Farrer, PhD5,22, Li-San Wang, PhD17, Gerard D. Schellenberg, PhD17, Jonathan L. Haines, PhD6, Angela L. Jefferson, PhD1, Sterling C. Johnson, PhD7, Walter A. Kukull, PhD3, Marilyn S. Albert, PhD23, C Dirk Keene, MD, PhD3, Andrew J. Saykin, PsyD24,25, Eric B Larson, MD, MPH3,26, Reisa A. Sperling, MD11,13, Richard P. Mayeux, MD27,28,29, Paul M Thompson, PhD20, Eden R Martin, PhD15, David A Bennett, MD30, Lisa L. Barnes, PhD30, Julie A Schneider, MD30, Paul K. Crane, MD, MPH3, Timothy J. Hohman, PhD1,2and Logan Dumitrescu, PhD1,2.
    (1)Vanderbilt Memory & Alzheimer’s Center, Vanderbilt University Medical Center, Nashville, TN, USA, (2)Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA, (3)University of Washington, Seattle, WA, USA, (4)VA Puget Sound Health Care System, Seattle Division, Seattle, WA, USA, (5)Boston University School of Medicine, Boston, MA, USA, (6)Cleveland Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA, (7)University of Wisconsin School of Medicine and Public Health, Madison, WI, USA, (8)College of Public Health, University of Kentucky, Lexington, KY, USA, (9)Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA, (10)University of California, Riverside, Riverside, CA, USA, (11)Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA, (12)Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, VIC, Australia, (13)Center for Alzheimer’s Research and Treatment, Brigham and Women’s Hospital/Harvard Medical School, Boston, MA, USA, (14)Stanford University School of Medicine, Stanford, CA, USA, (15)John P. Hussman Institutefor Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (16)Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (17)Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (18)UC San Francisco, San Francisco, CA, USA, (19)Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (20)Keck School of Medicine, University of Southern California, Los Angeles, CA, USA, (21)Washington University School of Medicine, St Louis, MO, USA, (22)Boston University School of Public Health, Boston, MA, USA, (23)Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA, (24)Indiana Alzheimer’s Disease Research Center, Indiana University School of Medicine, Indianapolis, IN, USA, (25)Indiana University School of Medicine, Indianapolis, IN, USA, (26)Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA, (27)Columbia University, New York, NY, USA, (28)The Taub Institute for Research on Alzheimer’s Disease and The Aging Brain, Columbia University, New York, NY, USA, (29)The Institute for Genomic Medicine, Columbia University Medical Center and The New York Presbyterian Hospital, New York, NY, USA, (30)Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA
  • Sex differences in white matter microstructure in aging and Alzheimer’s disease: A multi-site free-water imaging study. Derek B. Archer1,2,NiranjanaShashikumar1, Varuna Jasodanand1, Elizabeth E. Moore1, Kimberly R. Pechman1, Murat Bilgel3, Lori L. Beason-Held3, Yang An3, Shannon L. Risacher4,5, Bennett A. Landman6,7,8, Angela L. Jefferson1,2,9, Andrew J. Saykin4,5, Susan M. Resnick3, Timothy J. Hohman
    1Vanderbilt Memory and Alzheimer's Center, Vanderbilt University School of Medicine, Nashville, TN, USA2Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA3Laboratory of Behavioral Neuroscience, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA4Indiana University School of Medicine, Indianapolis, IN, USA5Indiana Alzheimer’s Disease Research Center, Indianapolis, IN, USA6Vanderbilt University Institute of Imaging Science, Vanderbilt University Medical Center, Nashville, TN, USA7Department of Biomedical Engineering, Vanderbilt University, Nashville, TN, USA8Department of Electrical and Computer Engineering, Vanderbilt University, Nashville, TN, USA9Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA
  • Leveraging longitudinal, multi-site diffusion MRI data in conjunction with free-water analysis to characterize patterns of white matter neurodegeneration in aging. Derek B. Archer1,2,NiranjanaShashikumar1, Varuna Jasodanand1, Elizabeth E. Moore1, Kimberly R. Pechman1, Murat Bilgel3, Lori L. Beason-Held3, Yang An3, Andrea Shafer3, Shannon L. Risacher4,5, Bennett A. Landman6,7,8, Angela L. Jefferson1,2,9, Andrew J. Saykin4,5, Susan M. Resnick3, Timothy J. Hohman1,2.
    1Vanderbilt Memory and Alzheimer's Center, Vanderbilt University School of Medicine, Nashville, TN, USA2Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA3Laboratory of Behavioral Neuroscience, National Institute on Aging, National Institutes of Health, Baltimore, MD, USA4Indiana University School of Medicine, Indianapolis, IN, USA5Indiana Alzheimer’s Disease Research Center, Indianapolis, IN, USA6Vanderbilt University Institute of Imaging Science, Vanderbilt University Medical Center, Nashville, TN, USA7Department of Biomedical Engineering, Vanderbilt University, Nashville, TN, USA8Department of Electrical and Computer Engineering, Vanderbilt University, Nashville, TN, USA9Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA
  • Native American Ancestry is associated with lower risk of Alzheimer's Disease: results from the Genetic of Alzheimer's disease in Peruvian Populations (GAPP) study. Nilton Custodio, PhD, MD1 , Marcio Soto-Ariari, PhD2, Rosa Montesinos, MD3, Maritza Pintado Caipa, MD1, Maria Fernanda Ore-Gomez, PhD4, CLAUDIA RIVERA-FERNANDEZ, Psic6Ioga5, Dolly Reyes-Dumeyer, BS6 and Giuseppe Tosto, MD, PhD6.
    (1)Cognitive impairment diagnosis and dementia prevention unit, lnstituto Peruano de Neurociencias, Lima, Peru, (2)Universidad Cat6Iica San Pablo, Arequipa, Peru, (3)Instituto Peruano de Neurociencias, Lima, Peru, (4)Instituto Peruano de Neurociencia, Lima, Peru, (5)Universidad Nacional de San Agustin de Arequipa, AREQUIPA, Peru, (6)Columbia University Irving Medical Center, New York, NY, USA
  • Hearing loss and dementia in Peruvian populations. Nilton Custodio, PhD, MD1, Virgilio E Failoc-Rojas, MA2 , Diego Chambergo-Michilot, MS3 , Diego Malaga2 , Maria Fernanda Ore-Gomez, PhD4 , CLAUDIA RIVERA-FERNANDEZ, Psic6Ioga5 , Marcie Soto-Aiiari, PhD6, Dolly Reyes-Dumeyer, BS7, Sandro Casavilca-Zambrano8 , Rosa Montesinos, MD2 and Giuseppe Tosto, MD, PhD 7
    (1)Cognitive impairment diagnosis and dementia prevention unit, Institute Peruano de Neurociencias, Lima, Peru, (2)Instituto Peruano de Neurociencias, Lima, Peru, (3)Facultad de Ciencias de la Salud, Universidad Cientifica del Sur, Lima, Peru, (4)Instituto Peruano de Neurociencia, Lima, Peru, (5)Universidad Nacional de San Agustin de Arequipa, AREQUIPA, Peru, (6)Universidad Cat6Iica San Pablo, Arequipa, Peru, (?)Columbia University Irving Medical Center, New York, NY, USA, (8)Instituto Nacional de Enfermedades Neoplasicas, Lima, Peru
  • Impact of the COVID-19 Pandemic in ADRD Patients and Caregivers in a Latin-American Country. Nilton Custodio, PhD, MD1 , Diego Malaga2 , Diego Chambergo-Michilot, MS3 , Maria Fernanda Ore-Gomez, PhD4 , CLAUDIA RIVERA-FERNANDEZ, Psic6Ioga5 , Marcio Soto-Ariari, PhD6 , Dolly Reyes-Dumeyer, BS7 ,Virgilio E Failoc-Rojas, MA2 , Sandro Casavilca-Zambrano8 , Rosa Montesinos, MD2 and Giuseppe Tosto, MD, PhD 7.
    (1)Cognitive impairment diagnosis and dementia prevention unit, lnstituto Peruano de Neurociencias, Lima, Peru, (2)Instituto Peruano de Neurociencias, Lima, Peru, (3)Facultad de Ciencias de la Salud, Universidad Cientifica del Sur, Lima, Peru, (4)Instituto Peruano de Neurociencia, Lima, Peru, (5)Universidad Nacional de San Agustin de Arequipa, AREQUIPA, Peru, (6)Universidad Cat6Iica San Pablo, Arequipa, Peru, Columbia University Irving Medical Center, New York, NY, USA, (8)Instituto Nacional de Enfermedades Neoplasicas, Lima, Peru
  • Association between nutritional status and dementia staging among Alzheimer's disease patients in Peru: Preliminary results of the Genetic of Alzheimer's Disease in Peruvian Population Study. Rosa Montesinos, MD1, Diego Chambergo-Michilot, MS2, Diego Malaga 1, Maria Fernanda Ore-Gomez, PhD3, CLAUDIA RIVERA-FERNANDEZ, Psic6Ioga4, Marcio Soto-Aiiari, PhD5, Dolly Reyes-Dumeyer, BS6, Virgilio E Failoc-Rojas, MA 1, Sandro Casavilca-Zambrano7, Nilton Custodio, PhD, MD 1,8 and Giuseppe Tosto, MD, PhD6
    (1)lnstituto Peruano de Neurociencias, Lima, Peru, (2)Facultad de Ciencias de la Salud, Universidad Cientffica del Sur, Lima, Peru, (3)Instituto Peruano de Neurociencia, Lima, Peru, (4)Universidad Nacional de San Agustfn de Arequipa, AREQUIPA, Peru, (5)Universidad Cat6Iica San Pablo, Arequipa, Peru, (6)Columbia University Irving Medical Center, New York, NY, USA, (7)Instituto Nacional de Enfermedades Neoplasicas, Lima, Peru, (8)Cognitive impairment diagnosis and dementia prevention unit, lnstituto Peruano de Neurociencias, Lima, Peru
  • Collection of genetic data in ethnic-based studies across Aymaras, Quechuas and Mestizos: the challenges of the Genetics of Alzheimer’s in Peruvian Population (GAPP) study. Dolly Reyes-Dumeyer1,2,3, Rosa Montesinos4, Maritza Pintado-Caipa4, Maria Fernanda Oré- Gómez5, Claudia Rivera-Fernandez6, Marcio Soto-Añari6,7, Nilton Custodio4, Giuseppe Tosto1,2,3
    1. Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University. 630 West 168th Street, New York, NY 10032, USA. 2. The Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University. 630 West 168th Street, New York, NY 10032, USA. 3. Department of Neurology, College of Physicians and Surgeons, Columbia University and the New York Presbyterian Hospital. 710 West 168th Street, New York, NY 10032, USA.4. Unidad de diagnóstico de deterioro cognitivo y prevención de demencia, Instituto Peruano de Neurociencias, Lima, Perú. 5. Centro de Salud Mental Comunitario Dr. Alfredo Mendiguri Pineda, Puno, Perú. 6. Instituto de Neurociencia Cognitiva, Arequipa, Perú.7. Laboratorio de Neurociencia, Universidad Católica San Pablo, Arequipa, Perú.
  • Sex differences in APOEeffects on cognition are domain-specific. Alex G. Contreras, Skylar Walters, Shubhabrata Mukherjee, Michael L. Lee, Seo-Eun Choi, Phoebe Scollard, Emily H. Trittschuh, Jesse Mez,WilliamS. Bush, Corinne D.Engelman, Qiongshi Lu, David W. Fardo, Keith F. Widaman, Rachel Buckley, Elizabeth Mormino, Brian Kunkle,Adam C. Naj,Lindsay R. Clark, Katherine A. Gifford, The Alzheimer’s Disease Neuroimaging Initiative (ADNI)*, Alzheimer’sDisease Genetics Consortium (ADGC), The Alzheimer’s Disease Sequencing Project (ADSP), Michael L. Cuccaro, Carlos Cruchaga, Margaret A. Pericak-Vance, Lindsay A. Farrer, Li-San Wang, Gerard Schellenberg, JonathanL. Haines, Angela L. Jefferson, Sterling C. Johnson, Walter A. Kukull, Marilyn S. Albert, C. Dirk Keene, AndrewJ. Saykin, Eric B. Larson, Reisa A. Sperling, Richard Mayeux,Paul M Thompson,Eden R. Martin, David A. Bennett, Lisa Barnes, Julie A. Schneider, Paul K. Crane, Timothy J. Hohman,and Logan Dumitrescu
  • Cognitive resilience polygenic risk score sensitive to preclinical disease changes. Jaclyn M. Eissman, BS1,2, Omair A. Khan, MAS3, Dandan Liu, PhD3, Vladislav A Petyuk, PhD4, Katherine A. Gifford, PsyD1, Logan Dumitrescu, PhD1,2, Angela L. Jefferson, PhD1and Timothy J. Hohman, PhD1,2.
    (1)Vanderbilt Memory & Alzheimer’s Center, Vanderbilt University Medical Center, Nashville, TN, USA, (2)Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA, (3)Department ofBiostatistics, Vanderbilt University Medical Center, Nashville, TN, USA, (4)Biological Sciences Division and Environmental Molecular Sciences Laboratory, Pacific Northwest National Laboratory, Richland, WA, USA, Richland, WA, USA
  • Longitudinal GWAS Identifies Novel Genetic Variants and Complex Traits Associated with Resilience to Alzheimer's Disease. Jared Phillips1, Logan Dumitrescu1,2, Derek Archer1,2, Alexandra Smith1, Shubhabrata Mukherjee3, Michael L. Lee3, Seo-Eun Choi3, Phoebe Scollard3, Emily H. Trittschuh4,5, Jesse Mez6, Emily R. Mahoney1,2, William S. Bush7, Corinne D. Engelman8, Qiongshi Lu9,10, David W. Fardo11,12, Keith F. Widaman13, Rachel Buckley14,15,16, Elizabeth Mormino17, Theresa M. Harrison18, R. Elizabeth Sanders3, Lindsay R. Clark10,19,20, Katherine A. Gifford1,  Badri Vardarajan21,22,23, The Alzheimer’s Disease Neuroimaging Initiative (ADNI)*, Alzheimer’s Disease Genetics Consortium (ADGC), The Alzheimer’s Disease Sequencing Project (ADSP), Michael L. Cuccaro24,25, Margaret A. Pericak-Vance24, Lindsay A. Farrer6,26,27, Li-San Wang28, Gerard Schellenberg28, Jonathan L. Haines7, Angela L. Jefferson1, Sterling C. Johnson20, Walter A. Kukull29, Marilyn S. Albert30, C. Dirk Keene31, AndrewJ. Saykin32, Eric B. Larson3,33, Reisa A. Sperling14, Richard Mayeux21,22,23,Alison Goate34,35, Sarah Neuner34,35, Alan Renton34,35, Edoardo Marcora34,35, Brian Fulton-Howard34,35, Tulsi Patel34,35,David A. Bennett36, Julie A. Schneider36, Paul K. Crane3, and Timothy J. Hohman
    1Vanderbilt Memory and Alzheimer’s Center, Vanderbilt University Medical Center, Nashville, TN2Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN3Department of Medicine, University of Washington, Seattle, WA4Department of Psychiatry and Behavior Sciences, University of Washington School of Medicine, Seattle, WA5VA Puget Sound Health Care System, GRECC, Seattle, WA6Department of Neurology, Boston University School of Medical, Boston, MA7Cleveland Institute for Computational Biology, Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH8Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI9Department of Statistics, University of Wisconsin-Madison, Madison, WI10Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI11Department of Biostatistics, College of Public Health, University of Kentucky, Lexington, KY12Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY13University of California at Riverside, Riverside, CA14Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, MA15Center of Alzheimer’s Research and Treatment, Department of Neurology, Brigham and Women’s Hospital/Harvard Medical School, Boston, MA16Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, Australia17Departmentof Neurology and Neurological Sciences, Stanford University, Stanford, CA18Helen Wills Neuroscience Institute, University of California Berkeley, Berkeley, CA19Department of Neurology, University of Wisconsin-Madison, Madison, WI20Geriatric Research and Education Center, William S. Middleton Memorial Veteran’s Hospital, Madison, WI 21Department of Neurology, Columbia University, New York, NY22The Taub Institute for Research on Alzheimer’s Disease and The Aging Brain, Columbia University, New York, NY23The Institute of Genomic Medicine, Columbia University Medical Center and The New York Presbyterian Hospital, New York, NY24John P. Hussman Institute for Human Genomics, University of Miami School of Medicine, Miami, FL25Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami, Miami, FL26Department of Biostatistics, Boston University School of Public Health, Boston, MA27Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA28Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA29Department of Epidemiology, University of Washington, Seattle, WA30Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD31Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA32Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN33Kaiser Permanente Washington Health Research Institute, Seattle, WA34Ronald M. Loeb Center for Alzheimer's Disease, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.35Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.36Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago, IL
  • Rare Genetic Risk in Progressive Supranuclear Palsy. Timothy S Chang, MD PhD1, Hui Wang, PhD2,3, Wan-Ping Lee, PhD2,3, Urvashi Kumar, BS1, Yuk Yee Leung2,3, Dennis W Dickson4, Clifton Dalgard5,6, Li-San Wang2,3, Gerard Schellenberg, PhD2,3, Daniel H Geschwind, MD PhD7,8,9,10
    1Movement Disorders Programs, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA2Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA3Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA4Department of Neuroscience, Mayo Clinic, Jacksonville, FL5Department of Anatomy Physiology& Genetics, Uniformed Services University of the Health Sciences. Bethesda, MD 20814, USA6The American Genome Center, Uniformed Services University of the Health Sciences. Bethesda, MD 20814, USA7Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA8Department of Neurobiology and Behavior, School of Biological Sciences, University of California, Irvine, CA 92697, USA9Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA10Institute of Precision Health, University of California, Los Angeles, Los Angeles, CA 90095, USA
  • Beyond the Uniform Data Set (UDS): Benefits of incorporating additional items for the measurement of memory, executive functioning, and language from the University of Pittsburgh Alzheimer's Disease Research Center. Seo-Eun Choi, PhD1, Shubhabrata Mukherjee, PhD, MS2, Laura E Gibbons, PhD1, Emily H. Trittschuh, PhD3.4,5, Michael L. Lee, PhD, MPH1, Phoebe Scollard, MA 1, R. Elizabeth Sanders, BA 1, Beth E Snitz, PhD6•7, Robert Sweet6,8, Oscar L. Lopez, MD6•7, Jesse B. Mez, MD, Ms9,10,11, Andrew J. Saykin, PsyD12,13,14, Timothy J. Hohman, PhD15,16,17 and Paul K. Crane, MD, MPH1 •2,
    (1)University of Washington, Seattle, WA, USA, (2)Department of General Internal Medicine, University of Washington School of Medicine, Seattle, WA, USA, (3)Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA, (4)VA Puget Sound Health Care System, Seattle Division, Seattle, WA, USA, (5)Geriatric Research, Education, and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, WA, USA, (6)University of Pittsburgh, Pittsburgh, PA, USA, (?)Alzheimer's Disease Research Center, Pittsburgh, PA, USA, (S)VA Pittsburgh Healthcare System, Pittsburgh, PA, USA, (9)Department of Neurology, Boston University School of Medicine, Boston, MA, USA, (1 0)Boston University Alzheimer's Disease Research Center, Boston, MA, USA, (11)Boston University School of Medicine, Boston, MA, USA, (12)Department of Radiology and Imaging Services, Indiana University School of Medicine, Indianapolis, IN, USA, (13)Indiana University, Indianapolis, IN, USA, (14)Indiana University School of Medicine, Indianapolis, IN, USA, (15)Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA, (16)Vanderbilt Memory and Alzheimer's Center, Vanderbilt University Medical Center, Nashville, TN, USA, (17)Vanderbilt Memory & Alzheimer's Center, Vanderbilt University Medical Center, Nashville, TN, USA
  • Development of harmonized and co-calibrated scores for memory, executive functioning, language, and visuospatial in the Australian Imaging, Biomarkers and Lifestyle (AIBL) Study, the Alzheimer’s Disease Neuroimaging Initiative (ADNI), and the National Alzheimer’s Coordinating Center (NACC) datasets. Paul K. Crane, Emily Trittschuh, Jesse Mez, Andrew J. Saykin, R. Elizabeth Sanders, Laura E. Gibbons, Michael Lee, Phoebe Scollard, Seo-Eun Choi, Stephanie R. Rainey-Smith, Cheyenne Chooi, Brandon Gavett, Paul Maruff, David Ames, Jessica Culhane, Kathryn Gauthreaux, K.C. Gary Chan, Sarah Biber, Kari Stephens, Walter Kukull, Logan Dumitrescu, Timothy Hohman, for the Alzheimer’s Disease Neuroimaging Initiative, Shubhabrata Mukherjee
  • Composite scores for memory, executive functioning, and language performance harmonized across waves from the National Alzheimer’s Coordinating Center (NACC). Michael Lee, Shubhabrata Mukherjee, Seo-Eun Choi, Phoebe Scollard, Elizabeth Sanders, Laura E. Gibbons, Jessica Culhane, Kathryn Gauthreaux, Gary Chan, Sarah Biber, Kari Stephens, Walter Kukull, Emily Trittschuh, Jesse Mez, Andrew J. Saykin, Timothy Hohman, Paul K. Crane
  • KDM6A expression is associated with a sex disease interaction in activated microglia. Logan Brase, Amy Dunn, Logan Demitrescu, Catherine Kaczorowski, Timothy Hohman, Celeste Karch, Oscar Harari, Bruno A. Benitez
  • Characterizing Disrupted Cellular Crosstalk Signaling Networks in Alzheimer’s Disease Using Single-NucleiTranscriptomics. R. D'Oliveira Albanus1, L. Brase1, S.-F. You1, C. Soriano-Tarraga1, B. Benitez1, C. Cruchaga1, C. Karch1*, O. Harari1*
    1Washington University School of Medicine, Department of Psychiatry, St. Louis, MO, United States of America* Co-corresponding author

AAIC 2021 Abstracts

  • Plasma and CSF biomarkers for Alzheimer’s Disease Among Caribbean Hispanics. Lawrence S Honig, MD-PhD1, Min Suk Kang, PhD1, Dolly Reyes-Dumeyer, BS1, Rafael A Lantigua, MD1, Marielba Zerlin-Esteves, PhD1, Angel Piriz, MD1, Brian Criollo, MD1, Zoraida Dominguez, MD2, Patricia Recio, MD3, Diones Rivera, MD3, Martin Medrano, MD4 and Richard Mayeux, MD1
    (1)Columbia University Irving Medical Center, New York, NY, USA, (2)Clinica Gregorio Hernandez, Puerta Plata, Dominican Republic, (3)CEDIMAT, Santo Domingo, Dominican Republic, (4)Mother and Teacher Pontifical Catholic University, Santiago, Dominican Republic
  • Identification of Genetic Modifiers for Alzheimer disease – the Familial Alzheimer Sequencing (FASe) project. Achal Neupane1,2, Brian Lenny1,2, John P. Budde1,2, Kristy Bergmann1,2, Joanne B. Norton1,2, Jen Gentsch1,2, Fengxian Wang1,2, John C. Morris3, Alison M Goate4,5, Alan E. Renton4, ADSP, NIA-LOAD, NCRAD, Maria Victoria Fernández1,2, Carlos Cruchaga1,2
    1 Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave. B8134, St. Louis, MO 63110, USA, 2 Hope Center for Neurological Disorders. Washington University School of Medicine, 660 S. Euclid Ave. B8111, St. Louis, MO 63110, USA , 3 Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA; Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA , 4 Department of Neuroscience and Ronald M. Loeb Center for Alzheimer’s Disease, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA, 5 Department of Neuroscience and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, 10029, USA
  • Admixture Mapping Identifies Novel Regions Influencing Alzheimer Disease in African Americans. K.L Hamilton-Nelson1, F. Rajabli1, B.W. Kunkle1, G. Tosto2, C. Reitz2, A. Naj3, P. Whitehead1, N.A. Kushch1, G.W. Beecham1,7, GS Byrd5, W.S. Bush4,  R. P. Mayeux2, L.A. Farrer6, J.L Haines4, G.D. Schellenberg3, M.A. Pericak-Vance1,7, E.R. Martin1,7, for the Alzheimer's Disease Genetics Consortium (ADGC), and Collaboration on Alzheimer’s Disease Research (CADRE) of the Alzheimer’s Disease Sequencing Project (ADSP)
    (1) John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA, (2) Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY, USA, (3) Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PE, USA, (4) Department of Population & Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA, (5) Maya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC, USA, (6) Departments of Medicine (Biomedical Genetics), Neurology, Ophthalmology, Epidemiology, and Biostatistics, Boston University Schools of Medicine and Public Health, Boston, MA, USA, (7) Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA
  • APOE-stratified genome-wide association analysis identifies novel Alzheimer disease candidate risk loci for African Americans. Brian W. Kunkle, PhD1, Melissa Jean-Francois, MPH1, Kara L. Hamilton-Nelson, MPH1, Mike Schmidt PhD1, Adam Naj, PhD2 Alzheimer’s Disease Genetics Consortium (ADGC), Eden R. Martin, PhD1, Jeffery M. Vance, MD, PhD1, Michael L. Cuccaro, PhD1, Farid Rajabli, PhD1  Gyungah Jun, PhD2, Li-San Wang5, Lindsay A. Farrer, PhD2, Jonathan L. Haines, PhD3, Goldie S. Byrd, PhD4, Gerard D. Schellenberg, PhD5, Richard Mayeux, MD, MSc6, Gary Beecham, PhD1, Margaret A. Pericak-Vance, PhD1, Christiane Reitz, MD, PhD6
    (1) John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA, (2) Boston University, Boston, MA, USA, (3) Case Western Reserve University, Cleveland, OH, USA, (4) North Carolina A&T State University, Greensboro, NC, USA, (5) University of Pennsylvania, Philadelphia, PA, USA, (6) Columbia University, New York, NY, USA
  • Multiple Viruses Detected in Human DNA are Associated with Alzheimer Disease Risk. Marlene Tejeda1, John Farrell1, Congcong Zhu1, Jonathan L. Haines2, Li-San Wang3, Gerard Schellenberg4, Margaret A. Pericak-Vance5,6, William S. Bush2, Eden R. Martin5,6, Lindsay A. Farrer1, Richard Sherva1
    1Department of Biomedical Genetics, Boston University School of Medicine, Boston, USA, 2 Department of Population & Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA,  3 Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, 4 Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA, 5 John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA, 6 Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA
  • African locus reduces the effect of ApoE ε4 allele in Alzheimer’s disease. Farid Rajabli, PhD1, Brian W. Kunkle, PhD, MPH1,2, Christiane Reitz, MD PhD3, Hugh C Hendrie, MB, ChB4,Olusegun Baiyewu, MBBS5, Adesola Ogunniyi, MBChB5, Sujuan Gao, PhD6, Nicholas A. Kushch1, Kara L. Hamilton-Nelson, MPH1, Alzheimer’s Disease Genetics Consortium (ADGC)7, The Alzheimer's Disease Sequencing Project (ADSP)7, Gary W. Beecham, PhD1,2, Margaret A. Pericak-Vance, Ph.D.1,8 and Jeffery M. Vance, M.D., Ph.D.1,8
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, Miami, FL, USA, (3)Columbia University, Depts. of Neurology and Epidemiology, New York, NY, USA, (4)Department of Psychiatry, Indiana University School of Medicine, Indianapolis, IN, USA,(5)College of Medicine, University of Ibadan, Ibadan, Nigeria, (6)Department of Biostatistics, Indiana University School of Medicine, Indianapolis, IN, USA, (7)Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (8)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
  • New ADRD susceptibility loci: NTM for Tau pathology & UNC5C for cerebral amyloid angiopathy. Charles White, Hyun‐sik Yang, Anita & CHARGE team, Julie Schneider, David Bennett, Philip De Jager
  • Impact of Structural Variation in ADSP. Fritz J Sedlazeck, PhD1, Adam C English, PhD2, Kim C. Worley, PhD1, Richard A Gibbs, PhD1 and Anita L. Destefano, PhD3,4,5,6 (1)Baylor College of Medicine, Houston, TX, USA, (2)Adam.English@bcm.edu, Houston, TX, USA, (3)Boston University School of Public Health, Boston, MA, USA, (4)Boston University and the NHLBI's Framingham Heart Study, Boston, MA, USA, (5)Boston University School of Medicine, Boston, MA, USA, (6)The National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA
  • Whole genome sequencing analysis of cognitively Wellderly individuals identifies potential protective genetic variants for Alzheimer’s disease. Gina M Peloso, Morgan A. Rosser, Joshua C. Bis, Myriam Fornage, Eric Boerwinkle, Claudia L. Satizabal, Bruce Psaty, Oscar Lopez, Thomas H. Mosley, Yanbing Wang, Josée Dupuis, Anita DeStefano, Sudha Seshadri, on behalf of the TOPMed Neurocognitive Working Group
  • Identifying Multimodal Imaging-Driven Subtypes in Mild Cognitive Impairment using Deep Multiview Learning. Yixue Feng, Mansu Kim, Kefei Liu, Andrew J. Saykin, Jason H. Moore, Qi Long, Li Shen
  • Identifying precision AD biomarkers with varying prognosis effects in genetics driven subpopulations. Brian Lee, Junwen Wang, Li Shen, and for the ADNI
  • Identifying imaging genetics biomarkers in Alzheimer’s disease via integrating graph convolutional neural network and canonical correlation analysis. Mansu Kim, Xiaohui Yao, Andrew J Saykin, Jason H Moore, Qi Long, Li Shen
  • Analysis of rate of change in quantitative traits for identifying biomarker-mediated genetic effects on MCI and AD. Yinuo Zhang, Brian N Lee, Li Shen, for the ADNI
  • Prediction of MCI-to-AD progression via integration of genetic data and longitudinal biomarkers, imaging and clinical data. Garam Lee, Kwangsik Nho, Erica Suh, Mansu Kim, Li Shen, Kyung-Ah Sohn, Dokyoon Kim
  • Novel polygenic risk score approach with transcriptome-based weighting for genetic risk prediction of late-onset Alzheimer’s disease. Sang-Hyuk Jung, Kwangsik Nho, Li Shen, Dokyoon Kim, Hong-Hee Won, for the Alzheimer’s Disease Neuroimaging Initiative
  • Alzheimer’s Disease Heterogeneity Explained by Polygenic Risk Scores based on Brain Transcriptomic Profiles. Jaeyoon Chung, Rebecca Panitch, Junming Hu, Congcong Zhu, Jesse Mez, Lindsay A Farrer, Thor D. Stein, Paul K. Crane, Kwangsik Nho, Gyungah R Jun
  • Disentangling brain heterogeneity via semi-supervised deep-learning and MRI: application to dimensional representations of Alzheimer’s Disease. Zhijian Yang*, Ilya M. Nasrallah*, Haochang Shou, Junhao Wen, Jimit Doshi, Mohamad Habes, Guray Erus, Ahmed Abdulkadir, Susan Resnick, David Wolk, Christos Davatzikos
  • Cognitive assessments in ADNI: Lessons learned from the ADNI Psychometrics project. Paul K. Crane, Seo-Eun Choi, Laura E. Gibbons, Shubhabrata Mukherjee, Ruoyi Zhu, Phoebe Scollard, Michael Lee, Emily Trittschuh, Andrew Saykin, Jesse Mez, Dan Mungas, Chun Wang, for the ADNI Psychometrics investigators
  • Copy Number Variation Identification and Association Study on 3,928 Alzheimer’s Disease Whole Genome Sequencing Data from the Alzheimer’s Disease Sequencing Project (ADSP). Wan-Ping Lee1,2, Mitchell Conery3, Otto Valladares1,2, Yi-Fan Chou1,2, Yuk Yee Leung2,4,5, Amanda Kuzma2,4, Amanda Brucker6, Albert A Tucci7, Wenbin Lu6, Gerard D Schellenberg4,5, Li-San Wang2,4,5 and Jung-Ying Tzeng6
    (1) University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA,(2) Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (3) Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (4) Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (5) Institute on Aging, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (6) Department of Statistics, North Carolina State University, Raleigh, NC, USA, (7) Bioinformatics Research Center, North Carolina State University, Raleigh, NC, USA
  • NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS): 2021 Update. Heather Issen12, Amanda Kuzma12, Otto Valladares12, Emily Greenfest-Allen24, Conor Klamann12, Prabhakaran Gangadharan12, Zivadin Katanic12, Andrew Wilk12, Yi Zhao12, Liming Qu12, Michelle K Moon12, Alexis Lerro12, Joseph Manuel12, Peter Keskinen12, Carlos Thomas12, Shin-Yi Chou6, Wan-Ping Lee12, Yuk Yee Leung123, Adam Naj15, Christian J. Stoeckert Jr. 124, Gerard D. Schellenberg13, Li-San Wang123
    1 Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, 2 Institute for Biomedical Informatics, 3 Institute on Aging, 4 Department of Genetics, 5 Department of Epidemiology, University of Pennsylvania Perelman School of Medicine, 6 Department of Economics, Lehigh University
  • The Alzheimer’s Disease Sequencing Project – Follow Up Study (ADSP-FUS): increasing ethnic diversity in Alzheimer’s genetics research with addition of potential new cohorts. Pedro Ramon Mena, MD1, Brian W. Kunkle, PhD, MPH1, Kelley Faber, MS2, Larry D. Adams, BA1, Jovita Inciute, MS1, Patrice Whitehead, B.S1., Tatiana M. Foroud, PhD2, Dolly Reyes-Dumeyer, B.S3, Amanda B Kuzma, MS4, Adam Naj, PhD4, Eden R. Martin, PhD1, Clifton L. Dalgard, PhD, CLS5, Gerard D Schellenberg, PhD4, Li-San Wang, PhD4, Richard Mayeux, MD3, Badri N Vardarajan, PhD3 Jeffery M. Vance, MD, PhD1, Michael L. Cuccaro, PhD1, and Margaret A. Pericak-Vance, PhD1
    (1) John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2) Indiana University School of, Indianapolis, IN, USA (3) Columbia University, New York, NY, USA, (4) University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (5) Uniformed Services University, Bethesda, MD, USA
  • Genome-wide Association and Multi-Omics Studies Identify MGMT as a Novel Risk Gene for Alzheimer Disease Among Women. Jaeyoon Chung1, Anjali Das6, Jesse Mez2, Xinyu Sun1, Yi-Fan Chou11, Yuk Yee Leung11, Sam Thiagalingam1, Xiaoling Zhang1, Gyungah R Jun1,3,4, Brian Kunkle8, Eden R Martin8, Margaret Pericak-Vance8, Richard Mayeux9, Jonathan L. Haines10, Gerard Schellenberg11, Kathryn L. Lunetta4, Jayant M. Pinto7, Li-San Wang11, Carole Ober6, Lindsay A Farrer1-5
    Departments of 1Medicine, 2Neurology, 3Ophthalmology, 4Biostatistics, and 5Epidemiology, Boston University Schools of Medicine and Public Health, Boston, MA; 6Departments of Human Genetics and 7Surgery/Section of Otolaryngology-Head and Neck Surgery, The University of Chicago; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL; 9Department of Neurology, Columbia University, NY; 10Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH; 11Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA
  • A meta-analysis of genome-wide association studies identifies new genetic loci associated with all-cause and vascular dementia. Bernard Fongang1, Galit Weinstein2, Alexander Guðjónsson4, Aniket Mishra5, Joshua C Bis6, Yang Qiong7, Bendik Winsvold8, Muralidharan Sargurupremraj1, Fan Kang-Hsien9, Kamboh M. Ilyas9, Gloria Li10, Jingyun Yang11, Saima Hilal 12,20, Claudia Satizabal1, Xueqiu Jian1, M.J. Knol14, Maria Pina Concas 16, Girotto Giorgia16, Moeen Riaz17, Paul Lacaze17, Agustin Ruiz18, Adam C Naj19, Gerard D. Schellenberg19, Patrick G. Kehoe21, Sven J. van der Lee22, Olivia Skrobot21,Vilmundur Guðnason4, Lopez, Oscar6, Haan, Mary13, Ingunn Bosnes8, Carole Dufouil15, Mary Ganguli9, Ching-Lung Cheung10, David A Bennett11, Jean-Charles Lambert23, Christopher Chen12, Arfan M. Ikram14, Stephanie Debette5, Myriam Fornage3, Sudha Seshadri1, for the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE)
    1. Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Science Center, San Antonio, TX, USA, 2. School of public Health, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa, Israel, 3. Center for Human Genetics, The University of Texas Health Science Center at Houston, Houston TX, USA, 4. Faculty of Medicine, University of Iceland, Reykjavik, Iceland, 5. Team VINTAGE, Bordeaux Population Health Research Centre, Inserm, University of Bordeaux, Bordeaux, France; Memory Clinic, Department of Neurology and Institute for Neurodegenerative Diseases, CHU de Bordeaux, Bordeaux,France., 6. Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, 7. Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., 8. Department of Research, Innovation and Education, Division of Clinical Neuroscience, Oslo University Hospital, Oslo, Norway, 9. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA, 10. Department of Pharmacology and Pharmacy, Centre for Genomic Sciences, The University of Hong Kong, Hong Kong, 11. Rush Alzheimer’s Disease Center and Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA, 12. Department of Pharmacology, National University of Singapore, Singapore, 13. Department of Epidemiology & Biostatistics, University of California, San Francisco, California 94158, USA, 14. Department of Epidemiology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands, 15. Bordeaux Population Health, Université Bordeaux, Bordeaux, France, 16. Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy, 17. Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, Australia, 18. Research Center and Memory Clinic, Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain, 19. Department of Biostatistics and Epidemiology/Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, 20. Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, 21. Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK, 22. Section Genomics of Neurodegenerative Diseases and Aging, Department of Clinical Genetics, Vrije Universiteit, Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands, 23. Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liés au vieillissement, Lille, France
  • Deep learning based genome-wide association analysis in Alzheimer’s disease. Jo T, Nho K, Saykin A.
  • Polygenic risk score for general cognitive function is associated with measures of cognition in South Asians from the LASI-DAD Study. Wei Zhao,1 Jennifer A. Smith,1 Miao Yu,1 Priya Moorjani,2 Andrea Ganna,3 A. B. Dey,4 Jinkook Lee,5 Sharon L.R. Kardia1
    1Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America, 2Department of Molecular and Cell Biology, University of California, Berkeley, United States of America, 3Institute for Molecular Medicine Finland, Helsinki, Finland, 4Department of Geriatric Medicine, All India Institute of Medical Sciences, New Delhi, India, 5Department of Economics, University of Southern California, United States of America
  • Common and rare variants in topologically associated domains for cognitive function in South Asians from the LASI-DAD Study. Jennifer A. Smith,1 Wei Zhao,1 Miao Yu,1 Priya Moorjani,2 Andrea Ganna,3 A. B. Dey,4 Jinkook Lee,5 Sharon L.R. Kardia1
    1Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, United States of America , 2Department of Molecular and Cell Biology, University of California, Berkeley, United States of America, 3Institute for Molecular Medicine Finland, Helsinki, Finland, 4Department of Geriatric Medicine, All India Institute of Medical Sciences, New Delhi, India, 5Department of Economics, University of Southern California, United States of America
  • Multi-tissue proteomic profiling for genetically defined Alzheimer disease cases. Yun Ju Sung1,2, Chengran Yang1, Adam Suhy1, Herve Rhinn3, Joanne Norton1, Fengxian Wang1, Joseph Bradley1, Fabiana Farias1, Bruno A. Benitez1, Oscar Harari1, Carlos Cruchaga1,4
    1Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA; 2Division of Biostatistics, Washington University School of Medicine, St. Louis, MO, USA; 3Department of Bioinformatics. Alector, Inc. South San Francisco CA, USA; 4The Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA
  • Using Amyloid PET as a biomarker to detect progression of early Alzheimer’s disease. Muhammad Ali1,2, Fabiana H G Farias1,2, Yun Ju Sung1,2, Fengxian Wang1,2, Carlos Cruchaga1,2,3,4,5,*
    1 Department of Psychiatry, Washington University, St. Louis, MO 63110, 2 NeuroGenomics and Informatics. Washington University, St. Louis, MO 63110, 3 Hope Center for Neurologic Diseases, Washington University, St. Louis, MO 63110, 4 The Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University School of Medicine, St Louis, MO, 63110., 5 Department of Genetics, Washington University School of Medicine, St Louis, MO, 63110
    *Corresponding author
  • Genome-wide scan of Alzheimer disease cohort identifies genetic loci associated with human brain metabolite levels. Ciyang Wang, Fabiana H.G. Farias, Yun Ju Sung, Brenna C Novotny, Chengran Yang, Fengxian Wang, Victoria Fernandez, Oscar Harari, Carlos Cruchaga
  • Profiling the metabolic landscape of AD. Brenna Kizer, Victoria Fernandez, John Budde, Kristy Bergmann, John C. Morris, Randall J Bateman, Celeste M Karch, Dominantly Inherited Alzheimer Network, Bruno Benitez, Carlos Cruchaga, Oscar Harari
  • Multi-omics data integration reveals clinically meaningful molecular profiles of Alzheimer Disease. Abdallah M. Eteleeb1,2 Brenna Kizer1,2, John C. Morris3,5,6, Randall J. Bateman3,5,6, Richard J. Perrin4,5,6, Celeste M. Karch1,2,5,6, Carlos Cruchaga1,2,5,6, Bruno A. Benitez1,2,5,6, Oscar Harari1,2,5,6# and Dominantly Inherited Alzheimer Network (DIAN)
    1Department of Psychiatry, Washington University, Saint Louis, MO 63110, 2NeuroGenomics and Informatics Center, Washington University, Saint Louis, MO 63110, 3Department of Neurology, Washington University, Saint Louis, MO 63110, 4Department of Pathology and Immunology, Washington University, Saint Louis, MO 63110, 5Hope Center for Neurological Disorders, Washington University, Saint Louis, MO 63110, 6The Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University, Saint Louis, MO 63110
    #Corresponding author
  • Functional exploration of AGFG2, a novel player in the pathology of Alzheimer Disease.  Victoria Fernandez, John P Budde, Eliza Dhungel, Abdallah Eteleeb, Fengxian Wang, Rita Martinez, Jacob Marsh, Joanne Norton, Jen Gentsch, John C. Morris, Randall J. Bateman, Laura Swisher, Eric McDade, Richard J. Perrin, Oscar Harari, Bruno Benitez, Celeste Karch, Carlos Cruchaga
  • An enrichment of rare variants and the lysosomal pathways are important contributors to early onset Alzheimer Disease. Maria Victoria Fernandez, PhD1,2, Cyril P Pottier, PhD3, John P. Budde, BS1,2, Fengxian Wang, PhD1, Joanne Norton1,2, Jen Gentsch1,2, John C. Morris, MD1,2,4, Alison M. Goate, DPhil5,6, Gary W. Beecham, PhD7,8, Christiane Reitz, MD PhD9,10, Nilufer Ertekin-Taner, MD, PhD11, Dennis W Dickson, MD11, Neill R. Graff-Radford, MD11, Bradley F. Boeve, MD12, Ronald C. Petersen, MD, PhD13, John Kauwe, PhD14, Henne Holstege, PhD15,16, Marc Hulsman, PhD16,17,18, Céline Bellenguez, PhD19, Jean-charles Lambert, PhD19,20, Camille Charbonnier, PhD21, ADES Consortia22, The Alzheimer's Disease Sequencing Project (ADSP)23, Gaël Nicolas, MD, PhD22, Rosa Rademakers, PhD24 and Carlos Cruchaga, PhD1,2,25
    (1) Washington University School of Medicine, St. Louis, MO, USA, (2) Hope Center for Neurological Disorders, St. Louis, MO, USA, (3) Applied and Translational Neurogenomics, VIB Center for Molecular Neurology, VIB,, Antwerp, Belgium, (4) Knight Alzheimer Disease Research Center, St. Louis, MO, USA, (5) Ronald M. Loeb Center for Alzheimer's disease, New York, NY, USA, (6) Icahn School of Medicine at Mount Sinai, New York, NY, USA, (7) University of Miami, Miami, FL, USA, (8) John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (9)Columbia University Medical Center, New York, NY, USA, (10) Columbia University, Depts. of Neurology and Epidemiology, New York, NY, USA, (11) Mayo Clinic, Jacksonville, FL, USA, (12) Mayo Clinic, Rochester, MN, USA, (13) Mayo Clinic Alzheimer's Disease Research Center, Rochester, MN, USA, (14) Brigham Young University, Provo, UT, USA, (15) Amsterdam UMC - Vrije Universiteit Amsterdam, Department of Epidemiology and Biostatistics, Amsterdam Public Health Research Institute, Amsterdam, Netherlands, (16) Section Genomics of Neurodegenerative Diseases and Aging, Department of Clinical Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, Netherlands, (17) Alzheimer Centre, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands, Amsterdam, Netherlands, (18) Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands, Delft, Netherlands, (19) Inserm, Institut Pasteur de Lille, Lille, France, (20) Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167, Lille, France, (21) Inserm U1079 / Rouen University, Rouen, France, (22) Inserm U1245 and Rouen University Hospital, Rouen, France, (23) Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA, (24) VIB-UAntwerp Center for Molecular Neurology, Antwerp, Belgium, (25) NeuroGenomics and Informatics Center, St. Louis, MO, USA
  • Single nucleus RNA-sequencing of GWAS loci variant carriers elucidates cell-types and transcriptional profile alterations associated with Alzheimer Disease. Logan Brase, Jorge Del-Aguila, Yaoyi Dai, Shih-Feng You, Carolina Soriano-Tarraga, Fabiana Farias, Dominantly Inherited Alzheimer Network, Bruno Benitez, Celeste Karch, Carlos Cruchaga and Oscar Harari
  • Genome-wide DNA methylation analysis of Autosomal Dominantly inherited and sporadic Alzheimer disease brains. Carolina Soriano-Tárraga, Fabiana Geraldo Farias, John Budde, Curtis Ebl, Joanne Norton, Jen Gentsch, John Morris, Randall J. Bateman, Laura Swisher, Eric McDade, Richard J. Perrin, Carlos Cruchaga, Oscar Harari

AAIC 2020 Abstracts

  • Genetic Associations with brain amyloidosis.  Neha S. Raghavan, Logan Dumitrescu, Elizabeth Mormino, Emily Mahoney, Annie J. Lee, Yizhe Gao, Murat Bilgel, David Goldstein, Theresa Harrison, Corinne D. Engelman, Andrew J. Saykin, Christopher D. Whelan,  Jimmy Z. Liu, William Jagust, Marilyn Albert, Sterling Johnson, Hyun-Sik Yang, Keith Johnson, Paul Aisen, Susan M. Resnick, Reisa Sperling, Philip L. De Jager, The Alzheimer’s Disease Neuroimaging Initiative, Julie Schneider, David A. Bennett, Matthew Schrag, Badri Vardarajan, Timothy J. Hohman, Richard Mayeux
  • The role of Native American ancestry in Alzheimer’s disease.  Sanjeev Sariya, Miguel Arce Rentería, Jennifer J. Manly, Silvia Mejia Arango, Alejandra Michaels Obregon, Rafael Samper-Ternent, Rebeca Wong, Richard Mayeux, Sandra Barral, Giuseppe Tosto
  • The Caribbean-Hispanic Alzheimer’s Brain Transcriptome Reveals Ancestry-Specific Disease Mechanisms.  Daniel Felsky, Sanjeev Sariya, Julie A. Schneider, David A. Bennett, Philip L. De Jager, Richard Mayeux, Giuseppe Tosto
  • An Alzheimer’s linked loss-of-function CLN5 variant impairs Cathepsin D maturation consistent with a retromer trafficking defect.  Yasir H Qureshi, Vivek M Patel,  Diego E Berman,  Milankumar J Kothiya,  Jessica L. Neufeld, Badri Vardarajan, Min Tang, Dolly Reyes-Dumeyer, Rafael Lantigua, Martin Medrano, Richard Mayeux, Scott A Small, Christiane Reitz
  • Genome-wide gene-based analysis of episodic memory trajectories in the Mexican Health and Aging Study (MHAS).  Sandra Barral, Yizhe Gao, Silvia Mejia Arango, Alejandra Michaels-Obregon, Rafael Samper-Ternent, Rebeca Wong, Richard Mayeux, Dolly Reyes-Dumeyer, Giuseppe Tosto
  • High Frequency of Progranulin Mutations in Caribbean Hispanic Families with Dementia.  Badri Vardarajan, Dolly Reyes-Dumeyer, Angel Piriz, Martin Medrano, Rafael Lantigua, Richard Mayeux
  • Alzheimer’s disease variant portal (ADVP): harmonized genetics data and evidence collection for Alzheimer’s disease. Yuk Yee Leung, PhD1, Pavel Kuksa, PhD2, Liming Qu3, Yi Zhao, MS3, Zivadin Katanic3, Amanda B Kuzma, MS3, Wei Fu, PhD2, Chia-Lun Liu, PhD2, Pei-chuan Ho, MS4, Kai-Teh Tzeng, MS4, Otto Valladares, MS3, Shin-Yi Chou, PhD4, Adam C Naj, PhD3, Gerard D Schellenberg, PhD3 and Li-San Wang, PhD2, (1)Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Philadelphia, PA, USA, (2)University of Pennsylvania, Philadelphia, PA, USA, (3)University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (4)Lehigh University, Bethlehem, PA, USA
  • Genome-wide profiling of the noncoding regulatory mechanisms in Alzheimer’s Disease. Lauren Kleidermacher1, Pavel Kuksa, PhD1, Chien-Yueh Lee, PhD1, Alexandre Amlie-Wolf1, Gerard D Schellenberg, PhD2, Li-San Wang, PhD1 and Yuk Yee Leung, PhD3, (1)University of Pennsylvania, Philadelphia, PA, USA, (2)University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (3)Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Philadelphia, PA, US
  • Identification of small RNA biomarkers for Alzheimer’s Disease. Kaylyn Clark, BS1, Yuk Yee Leung, PhD2 and Li-San Wang, PhD1, (1)University of Pennsylvania, Philadelphia, PA, USA, (2)Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Philadelphia, PA, USA
  • Assessing whole genome sequencing variation for Alzheimer’s disease in 4707 individuals from the Alzheimer’s disease Sequencing Project (ADSP). Gina Peloso, PhD, Yanbing Wang, Honghuang Lin, PhD, Chloé Sarnowski, PhD, Achilleas Pitsillides, PhD, Elise Lim, Gary Beecham, PhD, Kara Hamilton-Nelson, Jairo Ramos, PhD, Eden Martin, PhD, Adam C. Naj, PhD, Timothy A. Thornton, PhD, LiSan Wang, PhD, Eric Boerwinkle, PhD, Lindsay Farrer, PhD, Jonathan L. Haines, Richard Mayeux, MD, MSc, Margaret Pericak-Vance, PhD, Sudha Seshadri, MD, Gerard Schellenberg, PhD, Ellen M. Wijsman, PhD, Myriam Fornage, PhD, Josée Dupuis, PhD, Anita L DeStefano, PhD, Brian W. Kunkle, PhD, MPH on behalf of the Alzheimer’s Disease Sequencing Project.
  • Education and its Effect on Risk and Age at Onset in Alzheimer Disease (AD) in African Americans. Larry D. Adams, Susan H. Slifer, Jairo Ramos, Jovita Inciute, Takiyah Starks, Aja Scott, Faina C LaCroix , Renee Laux, Jonathan L Haines, Jeffery M Vance, Michael L Cuccaro, Goldie S Byrd, Gary Beecham,Margaret A. Pericak-Vance
  • Increased APOEε4 expression is associated with reactive A1 astrocytes and may confer the difference in Alzheimer Disease risk from different ancestral backgrounds. K. Celis, A. J Griswold, P. Bussies,F. Rajabli, P. Whitehead, K. Hamilton-Nelson, G. Beecham, D. Dykxhoorn, K. Nuytemans, L. Wang , O. K Gardner, D. Dorfsman, E.H Bigio, M. Mesulam, S. Weintraub, C. Geula, M. Gearing, C.L Dalgard, W. Scott, J. Haines, M.A Pericak-Vance, J. I Young, J. M Vance
  • iPSC-Derived Neurons and Microglia with an African-Specific ABCA7 Frameshift Deletion Have Impaired Function. Holly N. Cukier, Juliana Laverde-Paz, Juliana Ramirez, Larry D. Adams, Takiyah D. Starks, Jeffery M. Vance, Michael L. Cuccaro, Mathew Blurton-Jones, Jonathan L. Haines, Goldie S. Byrd, Margaret A. Pericak-Vance, Derek M. Dykxhoorn
  • Functional characterization of an Alzheimer disease-associated deletion in SORL1. Derek M. Dykxhoorn, Shaina A. Simon, Brian W. Kunkle, Michael L. Cuccaro, Jeffery M. Vance, Holly N. Cukier, Margaret A. Pericak-Vance
  • PRADI Cohort Case-Control Study on Related Factors of Alzheimer’s Disease. Briseida E. Feliciano-Astacio, Gary W. Beecham, Concepcion Silva, Pedro R. Mena, Jovita Inciute, Sergio Tejada, Larry Deon Adams, Vanessa Rodriguez, Katrina Celis, Michael Prough, Parker L. Bussies, Carolina Sierra, Maricarmen Contreras, Patricia Manrique, Nereida Feliciano, Angel Chinea, Jacob L. McCauley, Heriberto Acosta, Jeffery M. Vance, Michael L Cuccaro, Margaret A. Pericak-Vance
  • A multi-ancestry analysis of Alzheimer’s Disease co-expressed gene networks identifies a common immune signaling pathway regulated by granulocyte-colony stimulating factor (G-CSF). Olivia K. Gardner, George Ling, BS, Derek Van Booven, Patrice L. Whitehead, Kara L. Hamilton-Nelson, Larry D. Adams, Takiyah D. Starks, Aja M Scott, Katrina Celis,Faina C Lacroix, Natalia K. Hofmann, Vanessa Rodriguez, Sergio Tejada, Pedro R Mena, Concepcion Silva-Vergara, Nereida Feliciano, Heriberto Acosta, Eden R. Martin, Jeffery M. Vance, Michael L. Cuccaro, Briseida E. Feliciano-Astacio, Goldie S. Byrd, Jonathan L. Haines, William S. Bush, Gary W. Beecham, Margaret A. Pericak-Vance, Anthony J. Griswold
  • Transcriptomic Characterization of a Puerto Rican Alzheimer Disease Cohort Implicates Convergent Immune Related Pathways. Anthony J. Griswold, Olivia K. Gardner, Farid Rajabli, Kara L. Hamilton-Nelson, Larry D. Adams, Vanessa C Rodriguez, Pedro Ramon Mena, Patrice L. Whitehead, Natalia K. Hofmann, Catherine Garcia-Serje, Concepcion Silva-Vergara,  Nereida I Feliciano, Briseida E. Feliciano-Astacio, Heriberto Acosta, Jonathan L. Haines, Jeffery M. Vance, Michael L. Cuccaro, Gary W. Beecham, Margaret A Pericak-Vance
  • Sex-specific genome-wide meta-analysis identifies novel candidate genes for Alzheimer disease. Brian W. Kunkle, Celine BellenguezOmar Garcia Rodriguez, Kara L. Hamilton-Nelson, Melissa Jean-Francois, Adam C. Naj, Detelina Grozeva, Rebecca Sims, Ganna Leonenko, Lily Wang, Amanda B. Kuzma, Gary W. Beecham, William S Bush, Timothy Hohman, Jaeyoon Chung, Alzheimer Disease Genetics Consortium (ADGC), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), The European Alzheimer’s Disease Initiative (EADI), Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Valentina Escott-Price, Li-San Wang,  Richard Mayeux, Jonathan L. Haines, Lindsay A. Farrer, Sudha Seshadri, Gerard D Schellenberg, Philippe Amouyel, Margaret A. Pericak-Vance, Julie Williams, Jean-Charles Lambert, Myriam Fornage, Eden R. Martin, PhD1 for The International Genomics of Alzheimer’s Project (IGAP)
  • Identification of differential regulation of European versus African local ancestry haplotypes surrounding ApoEε4. Lipkin Vasquez, Celis, Van Booven, Hofmann, Rajabli, Griswold, Brown, Pericak-Vance, Nuytemans, Vance
  • Genome-wide association analyses identify genes modifying age-at-onset of Alzheimer’s disease. Eden R. Martin, Shuming SunSusan H. Slifer, Adam C. Naj, Xiaoyi R. Gao, and Yi-Ju Li, for the Alzheimer Disease Genetics Consortium (ADGC)
  • The Alzheimer’s Disease Sequencing Project – Follow Up Study (ADSP-FUS): increasing ethnic diversity in Alzheimer’s genetics research with addition of potential new cohorts. Pedro Ramon Mena, Brian W. Kunkle, Kelley Faber, Katrina Celis, Larry D. Adams, Tatiana M. Foroud,  Dolly Reyes-Dumeyer, Amanda B Kuzma, Adam Naj, Eden R. Martin, Clifton Dalgard, CLS5, Gerard D Schellenberg, Li-San Wang, Jeffery M. Vance, Michael L. Cuccaro, Richard Mayeux, Badri N Vardarajan,  Margaret A. Pericak-Vance
  • Comparative Trans-Ethnic Meta-Analysis of Whole Exome Sequencing Variation for Alzheimer’s Disease (AD) in 18,402 individuals of the Alzheimer’s Disease Sequencing Project (ADSP). Adam C. Naj, Farid Rajabli, Kara L. Hamilton-Nelson, Brian Kunkle, Xueqiu Jian, Yanbing Wang, Gina Peloso, Honghuang Lin, Chloé Sarnowski, Achilleas Pitsillides, , Claudia Satizabal, William S. Bush, Timothy A. Thornton, Ellen Wijsman, Sudha Seshadri, Jonathan L. Haines, Josée Dupuis, Goldie S. Byrd, Eden R. Martin, Margaret A. Pericak-Vance, and Myriam Fornage, on behalf of the Alzheimer Disease Sequencing Project.
  • Development of a massively parallel reporter assay to identify functional regulatory variants in the PICALM Alzheimer disease associated locus. Karen Nuytemans, Van Booven, Dykxhoorn, Vance, Pericak-Vance, Griswold
  • Exploring the role of Amerindian genetic ancestry and ApoEε4 gene on Alzheimer disease in the Peruvian population. M. Cornejo­-Olivas, F. Rajabli, Veliz­-Otani, P. Whitehead, N. Hofmann , Kara Hamilton-Nelson, M. Illanes-Manrique, K. Milla­-Neyra, V. Marca1, E. Sarapura-Castro, A. Rivera-Valdivia, C. Mejia-Rojas, L.D. Adams, P. Mena, J.M. Vance, R. Isasi, M.L. Cuccaro, G. Beecham, S. Castro-­Suarez, M. Meza, N. Custodio, R. Montesinos, P. Mazzetti, M.A. Pericak­-Vance
  • African and European Local Ancestry surrounding Apolipoprotein E Has a Differential Biological Effect Upon Acute Amyloid Beta Exposure in iPSC-Differentiated Astrocytes. Oded Oron, Krisna S. Maddy, Katrina Celis, Holly N. Cukier, Margaret A. Pericak-Vance, Juan Young, Mathew Blurton-Jones, Anthony J. Griswold Jeffery M. Vance, Derek M. Dykxhoorn
  • Southern European genetic ancestry shows reduced APOE e4 risk for Alzheimer disease in Caribbean Hispanic population. Farid Rajabli, Larry D. Adams, Sergio Tejada, Vanessa C Rodriguez, Pedro R Mena, Michael Prough1, Parker Bussies,  Nereida I Feliciano, Concepcion Silva, Maricarmen Contreras, Kara L. Hamilton-Nelson1, Heriberto Acosta3, Jeffery M. Vance, Michael L. Cuccaro1, Briseida E. Feliciano-Astacio, Gary W. Beecham, Margaret A. Pericak-Vance
  • Joint linkage and association mapping of preserved cognition in the old-order Amish. Jairo Ramos, James Jaworski, Larry D. Adams, Renee Laux, Laura J Caywood, Michael Prough, Jason E Clouse, Sharlene D Herington, Susan H Slifer, Denise Fuzzell, Sarada Fuzzell, Jane L. Sewell, Sherri D. Miller, Yeunjoo E. Song, Kristy Miskimen, Leighanne Main, Paula Ogrocki, Alan J Lerner, Jeffery M Vance, Michael L. Cuccaro, Jonathan L. Haines, Margaret A. Pericak-Vance, William K Scott
  • Recruitment Strategies for the Genetics of Alzheimer Disease in the Puerto Rican Population. Concepcion Silva, Pedro R. Mena, Sergio Tejada, Larry Deon Adams, Vanessa Rodriguez, Katrina Celis, Michael Prough, Parker L. Bussies, Carolina Sierra, Maricarmen Contreras, Patricia Manrique, Nereida Feliciano, Angel Chinea, Jacob L. McCauley, Heriberto Acosta, Jeffery M. Vance, Michael L Cuccaro, Gary W. Beecham, Margaret A. Pericak-Vance, Briseida E. Feliciano-Astacio
  • Longitudinal Assessment of Cognitive Decline in the Amish. Yeunjoo E. Song, Kristy Miskimen, Renee A. Laux, M Denise Fuzzell, Sarada L. Fuzzell, Jane L. Sewell, Sherri D. Miller, Larry D. Adams,  Laura J. Caywood, Michael Prough, Jason E. Close, Sharlene D. Herington, Susan H. Slifer, Jairo Ramos,  Jeffery M. Vance, Michael L. Cuccaro, Paula` K. Ogrocki, Alan J. Lerner, William K. Scott, Margaret A. Pericak-Vance, Jonathan L. Haines
  • The effect of global ancestry and diabetes on the 3MS score in older Puerto Ricans. Sergio J Tejada, Farid Rajabli, Pedro Ramon Mena, Eden R. Martin, Vanessa C Rodriguez, Katrina Celis, Larry D. Adams, Parker Bussies, Michael Proug, Kara L. Hamilton-Nelson,Concepcion Silva-Vergara, Heriberto Acosta, Jeffery M. Vance, Briseida E. Feliciano-Astacio, Gary W. Beecham,  Margaret A. Pericak-Vance, Michael L. Cuccaro
  • Functional Analysis of Candidate Genes Identified through Whole Genome Sequencing in Caribbean Hispanic Families for Late-onset Alzheimer Disease. L. Wang, H.N. Cukier, Rajabli, Hofmann, Adams, V. Rodriguez, P.R. Mena, C. Garcia Serje, C. Silva, N. Feliciano, B.E. Feliciano-Astacio, H. Acosta, J.M. Vance, G.W. Beecham, M.A. Pericak-Vance
  • Novel loci for Alzheimer disease identified in ADGC and UK Biobank GWAS datasets imputed with ADSP and TopMed reference panels. Farrell J, Zhu C, Zhang X, Jun G, Naj AC, Wang L-S, Mayeux R, Haines J, Pericak-Vance M, Schellenberg GD, Lunetta KL, Farrer LA.  
  • HLA-DQA1*03:01 and DQB1*03:02 are protective alleles for Alzheimer disease, multiple sclerosis, and celiac disease. Farrell J, Zhu C, Zhang X, Jun G, Mayeux R, Mez J, Haines JL, Pericak-Vance MA, Schellenberg G, Lunetta K, Farrer LA.
  • Mechanisms for the protective effect of APOE2 against Alzheimer disease is linked to tau and the classical complement pathway. Jun GR, Zhu C, Panitch R, Chung J, Hu J, Want L-S, Lunetta KL, Haines JL, Mayeux R, Pericak-Vance MA, Schellenberg GD, Stein TD, Farrer LA
  • Defining Alzheimer’s disease subtypes using polygenic risk scores integrated with genomic and brain transcriptomic profiles. Hu J, Chung J, Panitch R, Zhu C, Beecham GW, Mez J, Farrer LA, Stein TD, Crane PK, Jun GR
  • Novel mechanism underlying the APOE e2 protective effect for Alzheimer disease implicated by integrative genome and transcriptome analysis. Panitch R, Zhu C, Hu J, Chung J, Stein TD, Farrer LA, Jun GR
  • Genome-wide Interaction Study of Smoking in Alzheimer’s Disease. Moore M, Chung J, Rosenthaler M, Uretsky M, Abdolmohammadi A, Raghavan NS, Farrell J, Bennett DA, Crane PK, Kamboh MI, Kukull WA, Larson EB, Haines JL, Pericak-Vance MA, Schellenberg GD, Mayeux R, Lunetta KL, Farrer LA, Mez J
  • Genome wide association study of chronic traumatic encephalopathy. Atherton K, Khan MM, Shea C, Chung J, Nair E, Baucom ZH, Abdolmohammadi B, Uretsky M, Martin BM, Palmisano JN, Farrell K, Cherry J, Alvarez VE, Huber BR, Alosco ML, Lunetta KL, Tripodis Y, Stein TD, Farrer LA, Crary JF, McKee AC, Mez J.
  • Genome-Wide SNP Interaction Tests with Polygenic Risk Score for Intracerebral Hemorrhage Identifies Association with Alzheimer Disease at FSTL5 Chung J, Marini S, Mez J, Zhang X, Yang H, Jun G, Mayeux R, Haines J, PericakVance M, Schellenberg G, Lunetta K, Rosand J, Anderson C, Farrer LA.
  • Sex-Specific Cross-Phenotype Analysis of Alzheimer’s Disease and Cerebral Small Vessel Diseases. Anderson C, Chung J, Marini S, Zhang X, Mez J, Jun G, Mitchell B, Kunkle B, Martin E, Mayeux R, Haines J, Pericak-Vance M, Schellenberg G, Lunetta K, Rosand J, Farrer L.
  • Cell-type Specific eQTLS (ct-eQTLs) Associated with Alzheimer Disease in Blood and Brain Tissue. Patel D, Zhang X, Farrer LA.
  • Evaluation of Pleiotropy between Breast Cancer and Alzheimer Disease as a Means to Detect Novel AD Susceptibility Loci. Zhu C, Chung J, Mez J, Zhang X, Jun G, Kunkle B, Martin E, Pericak-Vance M, Mayeux R, Haines J, Schellenberg G, Lunetta K, Farrer L
  • Age Stratified Analysis to Identify Genetic Loci with Age-Dependent Effects on the Risk of Late-onset Alzheimer Disease. Zhang X, Ma Y, Zhu C, Farrell JJ, Chung J, Mayeux R, Haines J, Pericak-Vance M, Schellenberg G, Lunetta KL, Farrer LA.
  • Early-Mid Adulthood Measures of HDL, Triglycerides and Fasting Glucose are Associated with Late-onset Alzheimer Disease. Zhang X, Tong T, Chang A, Ang TFA, Tao Q, Auerbach S, Devine S, Qiu W, Mez, Massaro J, Lunetta KL, Au R, Farrer  LA.
  • Differential effects of Apolipoprotein E on the molecular and cellular phenotypes associated with Alzheimer’s disease in isogenic human iPSC-derived neurons. You Y, Poon WW, Jun GR, Farrer LA, Ikezu T.
  • Alzheimer-associated circular RNA (circHOMER1) regulates synaptic function and cognition. Umber Dube, Jorge L Del-Aguila, Zeran Li, John Budde, Oscar Harari, Carlos Cruchaga Nikolaos Mellios and Bruno A. Benitez
  • Proteogenomic analysis of cerebrospinal fluid reveals causal role of proteins from the autophagy-lysosome pathway in Parkinson’s disease. Chengran Yang, Fabiana Geraldo Farias,  Oscar Harari, Carlos Cruchaga, and Bruno A. Benitez
  • Late-onset Alzheimer's Disease-associated gene, CPAMD8, increases b-CTF and affects APP processing through regulation of Autophagy- Lysosome pathway. Qin Wei, Fernandez-Victoria, Oscar Harari, Carlos Cruchaga, Bruno A Benitez
  • Identification of Blood eQTLs for AD risk loci. Joseph Bradley, Yuetiva Deming, Zeran Li, Oscar Harari, Benjamin Saef, John Budde, Fengxian Wang, Fabiana Geraldo Farias, Richard Davenport, The Alzheimer’s Disease Neuroimaging Initiative (ADNI), Carlos Cruchaga
  • Prediction of Alzheimer’s disease using plasma RNA sequences. Jorge del-Aguila, Logan Brase, Bruno Benitez, Celeste Karch, Carlos Cruchaga, Oscar Harari
  • Deep Molecular Phenotyping and Precision Medicine in Neurodegenerative diseases. Laura Ibanez, Victoria Fernandez, Fabiana Geraldo Farias, John Budde, Celeste Karch, Bruno Benitez, Oscar Harari, Carlos Cruchaga
  • Identification of multi-issue protein quantitative trait loci (pQTLs) for Alzheimer’s Disease. Chengran Yang, Fabiana Geraldo Farias, Kathie Mihindukulasuriya, Richard Davenport, Fengxian Wang, John Budde, Herve Rhinn, Carlos Cruchaga, Oscar Harari
  • A Mendelian Randomization Approach to Characterize Overlap in the Pathophysiology of Neurological Disorders. Jorge Alberto Bahena, MS, Brett Eiffert, BS, Fabiana H.G. Farias, PhD, Laura Ibanez, PhD, Kathie A. Mihindukulasuriya, PhD, John P. Budde, BS, Carlos Cruchaga, PhD and Oscar Harari, PhD
  • Ascertaining perturbations in Microglial expression profiles using single-nuclei RNA-seq from Human brains. Logan Brase, Jorge del-Aguila, Bruno Benitez, Celeste Karch, Carlos Cruchaga, Oscar Harari
  • Single-nuclei RNA-seq of brains carriers of high-risk variants and Mendelian mutations. Jorge del-Aguila, Logan Brase, Bruno Benitez, Carlos Cruchaga, Oscar Harari
  • A comprehensive analysis of dementia cerebrospinal fluid Biomarkers using GWAS, polygenic risk scores and Mendelian Randomization in Parkinson’s disease. Laura Ibanez, Chengran Yang, Fabiana Geraldo Farias,  Oscar Harari, Carlos Cruchaga, and Bruno A. Benitez
  • Common and rare variants in Alzheimer’s Disease genes are associated with episodic memory in South Asians from the LASI-DAD Study. Wei Zhao, Jennifer A. Smith, Miao Yu, Priya Moorjani, Andrea Ganna, A. B. Dey, Jinkook Lee, Sharon L.R. Kardia
  • Search for Protective Genetic Variants in Alzheimer Disease in the U.S. Mid-Western Amish.  Leighanne R. Main, Yuenjoo Song, Renee Laux, Kristy Miskimen, Michael L. Cuccaro, Paula Ogrocki, Alan J. Lerner, Jeffrey M. Vance, M. Denise Fuzzell, Sarada Fuzzell, Jane Sewell, Laura J. Caywood, Michael Prough, Bill Scott, Larry D. Adams, Jason E. Clouse, Sharlene D. Herington, Margaret A. Pericak-Vance, and Jonathan L. Haines
  • Using Linkage to Identify Novel Gene-Gene Interactions in Alzheimer’s Disease.  Michelle Grunin, Nicholas R. Wheeler, William S. Bush, Jonathan L. Haines, and the Alzheimer’s Disease Sequencing Project
  • Tissue-Specific Analysis of Rare Genetic Variation for Alzheimer’s Disease.  Nicholas R. Wheeler, Penelope Benchek, Brian W. Kunkle, Kara L. Hamilton-Nelson, Anthony J. Griswold, Adam C. Naj, Lindasy A. Farrer, Eden R Martin, Margaret A. Pericak-Vance, Jonathan L. Haines, William S. Bush, and the Alzheimer’s Disease Sequencing Project
  • Structural characterization of rare missense variants within known neurodegenerative disease proteins.  Ellen L. Palmer, Christopher Moth, Penelope Benchek, Nicholas R. Wheeler, Brian W. Kunkle, Kara L. Hamilton-Nelson, Anthony J. Griswold, Adam C. Naj, Lindsay A. Farrer, Eden R. Martin, Margaret A. Pericak-Vance, Jonathan L. Haines, Jonathan H. Sheehan, John A. Capra, and William S. Bush
  • Multi-modal genome-wide meta-analysis of brain amyloidosis reveals heterogeneity across CSF, PET, and pathological amyloid measures. Derek B. Archer, Emily R. Mahoney, Logan Dumitrescu, Angela L. Jefferson, William Jagust, Susan M. Resnick, Murat Bilgel, Sterling C. Johnson, Corinne D. Engelman, Henrik Zetterberg, Kaj Blennow, Yuetiva Deming, Reisa A. Sperling, Keith A. Johnson, Rachel F. Buckley, A4 Study, Eric Larson, Walter A. Kukull, C. Dirk Keene, Thomas Montine, Gary Beecham, Gerard D. Schellenberg, Julie A. Schneider, David A. Bennett, Richard P. Mayeux, Carlos Cruchaga, Timothy J. Hohman
  • Exploring genetic contributors to neuroprotection from AD pathologies: A genome-wide association study. Mabel Seto, Emily R. Mahoney, Logan Dumitrescu, Corinne D. Engelman, Yuetiva Deming, Marilyn Albert, Sterling C. Johnson, Henrik Zetterberg, Kaj Blennow, Angela L. Jefferson, Timothy J. Hohman
  • Leveraging predicted gene expression data for recapitulation of gene co-expression network analysis associations with AD pathology and cognitive decline. Mabel Seto, Vaibhav A. Janve, Benjamin A. Logsdon, Sara Mostafavi, Logan Dumitrescu, Emily R. Mahoney, Chris Gaiteri, Julie A. Schneider, David A. Bennett, Philip L. De Jager, Timothy J. Hohman
  • Sex differences in genetic predictors of resilience to Alzheimer’s disease. Logan Dumitrescu1,2, Emily R. Mahoney1,2, Shubhabrata Mukherjee3, Michael L. Lee3, William S. Bush4, Corinne D. Engelman5, Qiongshi Lu6,7, David W. Fardo8,9, Emily H. Trittschuh10,11, Jesse Mez12, Catherine Kaczorowski13, Keith F. Widaman14, Rachel Buckley15,16,17, Michael Properzi15, Elizabeth Mormino18, Hyun-Sik Yang15,16, Shea J. Andrews19, R. Elizabeth Sanders3, Neha S. Raghavan20,21,22, Badri Vardarajan20,21,227, The Alzheimer’s Disease Neuroimaging Initiative (ADNI), Alzheimer’s Disease Genetics Consortium (ADGC), A4 Study Team, Gerard Schellenberg23, Carlos Cruchaga24, Jonathan L. Haines4, C. Dirk Keene25, Andrew J. Saykin26, Eric B. Larson3,27, Reisa A. Sperling15, Richard Mayeux20,21,22, David A Bennett28, Julie A. Schneider28, Paul K. Crane3, Angela L. Jefferson1, Timothy J. Hohman1,2

AAIC Abstracts 2019

  • Genome-wide linkage analysis of African-American Alzheimer disease families. James Jaworski, Brian W. Kunkle, Farid Rajabli, Larry Adams, Takiyah Starks, The NIA-LOAD Family-Based Study, Alison Goate, Mike Cuccaro, Jeffery Vance, Eden R. Martin, Tatiana Foroud, Richard Mayeux, Christiane Reitz, Goldie S Byrd, Gary Beecham, Margaret Pericak-Vance
  • The Resource for Early-Onset Alzheimer Disease Research (READR), a genomics resource for EOAD: ascertainment and study design. M. Jean-Francois1, F.S. Johnson1, P. Baez2, I. Martinez2, L. Adams1, J. Vance1, E. Martin1, T. Ayodele2 , M. Pericak-Vance1, M. Cuccaro1, C. Reitz2, G.W. Beecham1
    1)John P Hussman Institute for Human Genomics, University of Miami, Miami, FL.; 2) Taub Institute for Research on Alzheimer Disease, Columbia University, New York, NY
  • NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS): Update 2019. Briana Vogel12, Amanda Kuzma12, Otto Valladares12, Emily Greenfest-Allen24, Prabhakaran Gangadharan12, Yi Zhao12, Zivadin Katanic12, Liming Qu12, Han-Jen Lin12, Michelle K Moon12, Yuk Yee Leung123, Heather Issen12, Conor Klamann12, Adam Naj15, Christian J. Stoeckert Jr. 124, Gerard D. Schellenberg13, Li-San Wang123
    1 Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, 2 Institute for Biomedical Informatics, 3 Institute on Aging, 4 Department of Genetics, 5 Department of Epidemiology, University of Pennsylvania Perelman School of Medicine 
  • Exome-wide analysis identifies novel sex-specific candidate genes for Alzheimer disease. Brian W. Kunkle, PhD, MPH1, Kara L. Hamilton-Nelson, MPH1, Lissette Gomez1, Melissa Jean-Francois1, Adam C. Naj, PhD2, Lily Wang1, Amanda B. Kuzma2, Gary W. Beecham, PhD1, William S Bush, PhD3, Timothy Hohman, PhD4, Badri Vardarajan, PhD5, Li-San Wang, PhD2, Richard Mayeux, MD5, Jonathan L. Haines, PhD3, Lindsay A. Farrer, PhD6, Gerard D Schellenberg, PhD2, Margaret A. Pericak-Vance, PhD1, Eden R. Martin, PhD1 and The Alzheimer’s Disease Sequencing Project (ADSP)
    (1) University of Miami Miller School of Medicine, Miami, FL, USA, (2) University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, (3) Case Western Reserve University School  of Medicine, Cleveland, OH, USA, (4) Vanderbilt University Medical Center, Nashville, TN, USA, (5) Columbia University Medical Center, New York, NY, USA, (6) Boston University School of Medicine, Boston, MA, USA.
  • Neuropsychiatric Features in African American (AA) and Caucasian (CA) Individuals with Alzheimer Disease (AD). Michael L. Cuccaro, PhD1,2, Katrina Celis, MD2, Larry D. Adams, BS2, Aja M Scott, MS2, Temitope Ayodele, BS3, Izri Martinez, MD3, Takiyah D. Starks, MS4, Jeffery M Vance, PhD1,5, Goldie S. Byrd, PhD4, Jonathan L Haines, PhD6, Christiane Reitz, PhD7, Gary W. Beecham, PhD1,2 and Margaret A Pericak-Vance, Ph.D.1,5
    (1)Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, FL, USA, (2)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (3)Columbia University Medical Center, New York, NY, USA, (4)Maya Angelou Center for Health Equity (MACHE) / Wake Forest School of Medicine, Winston Salem, NC, USA, (5)John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA,(6)Case Western Reserve University School of Medicine, Cleveland, OH, USA, (7)Columbia University, New York, NY, USA
  • Investigating ancestry specific differences in APOE function using induced pluripotent stem cells. Derek M. Dykxhoorn, Holly N. Cukier, Krisna S. Maddy, Larry D. Adams, Takiyah D. Starks, Katrina Celis, Heriberto Acosta, Briseida Feliciano, Goldie S Byrd, Michael L Cuccaro, Gary  W Beecham, Margaret A. Pericak-Vance, and Jeffery M. Vance.
  • Protective effect of education on cognitive function in the Old Order Amish. Jairo Ramos, PhD1, Laura J Caywood, BS2, Michael Prough, BS1, M Denise Fuzzell, BS3, Sarada Fuzzell, BA, BFA3, Kristy Miskimen, PhD3, Patrice L. Whitehead, BS2, Larry D. Adams, BS1, Renee Laux, MS3, Yeunjoo Song, PhD3, Paula Ogrocki, PhD4, Alan J Lerner, MD3, Jeffery M Vance, PhD1, William K Scott, PhD1, Margaret A. Pericak-Vance, PhD1,5 and Michael L. Cuccaro, PhD1,6
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)University of Miami, Miami, FL, USA, (3)Case Western Reserve University School of Medicine, Cleveland, OH, USA, (4)University Hospitals Cleveland Medical Center, Cleveland, OH, USA, (5)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA, (6)The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
  • Identification of functional variants in the African local ancestry region surrounding ApoE ε4. Katrina Celis, Kara Hamilton-Nelson, Natalia Hoffman, Margaret A Pericak-Vance, Jeffery Vance, Liyong Wang
  • Utilizing CRISPR to Investigate an Ethnic Specific Deletion in ABCA7. Holly N. Cukier, Karen Nuytemans, Thomas A. Strong, Rawan A. Eldabbas, Margaret A. Pericak-Vance, Derek M. Dykxhoorn
  • The Tomm40 Repeat Does Not Provide Protection for AD for ApoE4 Carriers with Local Genomic African Ancestry (LGA). Parker Bussies, B.S.1, Farid Rajabli, PhD1,2, Kara L. Hamilton-Nelson, MPH1,2, Patrice L. Whitehead, BS1,2, Michael L Cuccaro, PhD1,2, Anthony J. Griswold, PhD1,2, Johnathan L Haines, PhD3, Goldie S. Byrd, PhD4, Margaret A. Pericak-Vance, PhD1,5, Jeffery M. Vance, MD, PhD1,2 and Juan Young, PhD1,2
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)University of Miami, Miami, FL, USA, (3)Case Western Reserve University, Cleveland, OH, USA, (4)Wake Forest University, Winston-Salem, NC, USA, (5)The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA
  • The Alzheimer’s Disease Sequencing Project – Follow Up Study (ADSP-FUS): increasing ethnic diversity in Alzheimer’s genetics research. Mena, Kunkle, Faber, Celis, Adams, Foroud, Reyes-Dumeyer, Kuzma, Naj, Martin, Dalgard, Schellenberg, Wang, Vance, Cuccaro, Mayeux, Vardarajan, Pericak-Vance
  • Using Massively Parallel Reporter Assays to Identify Protective Functional Variants in the ApoE Region. Karen Nuytemans, Ph.D.1,2, Derek J van Booven, BS1, Natalia K. Hofmann, BS1, Farid Rajabli, PhD1, Anthony J. Griswold, PhD1,2, Christopher D. Brown, PhD3, Margaret A. Pericak-Vance, PhD1,2 and Jeffery M Vance, PhD1,2
    (1)John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA, (2)Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA, (3)University of Pennsylvania, Philadelphia, PA, USA
  • Genome-wide linkage analysis of Caribbean Hispanic Puerto Rican families supports evidence of linkage to C9orf72 region of chromosome 9. F. Rajabli1, B.E. Feliciano-Astacio2, K. Celis1, K.L. Hamilton-Nelson1, L.D. Adams1, V. Rodriguez1, P.R. Mena1, P. Whitehead, H. Acosta3, A. Chinea4, J.M. Vance15, M.L. Cuccaro15 , G.W. Beecham15, M.A. Pericak-Vance1,5
    1) John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; 2) Universidad Central del Caribe, Caguas, PR, USA; 3) Clinica de la Memoria, San Juan, PR, USA; 4) Universidad Central del Caribe, Bayamon, PR, USA 5) Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, FL, USA
  • Tests of Disease Risk versus Age at Onset: A Power Comparison. Eden R. Martin, X. Raymond Gao, Jonathan L. Haines, Margaret Pericak-Vance, Yi-ju Li
  • Genetic Variants in Alzheimer’s Disease-Associated Regions Have Different Effects on RNA Editing Rates in African-American and non-Hispanic White Populations. Olivia K. Gardner, BS1, Lily Wang, PhD1, Derek Van Booven, BS1, Patrice L. Whitehead, BS1, Kara L. Hamilton-Nelson, MPH1, Larry D. Adams, BS1, Takiyah D. Starks, MS2, Natalia K. Hofmann, BS1, Jeffery M. Vance, MD, PhD1,3, Michael L. Cuccaro, PhD1,3, Eden R. Martin, PhD1,3, Goldie S. Byrd, PhD2, Jonathan L. Haines, PhD4,5,6, William S. Bush, PhD4,5, Gary W. Beecham, PhD1,7, Margaret A. Pericak-Vance, PhD1,3 and Anthony J. Griswold, PhD1,3
    (1)John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA, (2)Maya Angelou Center for Health Equity (MACHE) / Wake Forest School of Medicine, Winston Salem, NC, USA, (3)The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA, (4)Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA, (5)Cleveland Institute for Computational Biology, Cleveland, OH, USA, (6)Case Western Reserve University School of Medicine, Cleveland, OH, USA, (7)Dr. John T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA

 

 

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