All Stories

  1. Person-Centered Social Determinants and Neighborhood-Level Deprivation Associated With Disability in Hispanic People With Multiple Sclerosis

    Article • Neurology, February 2025, Wolters Kluwer Health

    Dr Jacob L McCauley

  2. Building a Digital Health Research Platform to Enable Recruitment, Enrollment, Data Collection, and Follow-Up for a Highly Diverse Longitudinal US Cohort of 1 Million People in the All of Us Research Program: Design and Implementation Study

    Article • Journal of Medical Internet Research, January 2025, JMIR Publications Inc.

    Dr Jacob L McCauley

  3. Multiple sclerosis in Colombia: A review of the literature

    Article • Multiple Sclerosis Journal - Experimental Translational and Clinical, October 2024, SAGE Publications

    Dr Jacob L McCauley

  4. Patients’ views on HCC biospecimen research: Understanding the role of race and culture through interviews

    Article • Hepatology Communications, May 2023, Wolters Kluwer Health

    Dr Jacob L McCauley

  5. Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population

    Article • PLOS One, December 2022, PLOS

    Dr Jacob L McCauley

  6. Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data

    Article • Life, July 2022, MDPI AG

    Dr Jacob L McCauley

  7. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

    Article • March 2022, Cold Spring Harbor Laboratory Press

    Dr Jacob L McCauley

  8. Risk Factors Associated With Mortality and Neurologic Disability After Intracerebral Hemorrhage in a Racially and Ethnically Diverse Cohort

    Article • JAMA Network Open, March 2022, American Medical Association (AMA)

    Dr Jacob L McCauley

  9. Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans

    Article • Brain, March 2022, Oxford University Press (OUP)

    Dr Jacob L McCauley

  10. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

    Article • Molecular Genetics & Genomic Medicine, March 2022, Wiley

    Dr Jacob L McCauley

  11. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

    Article • February 2022, Cold Spring Harbor Laboratory Press

    Dr Jacob L McCauley

  12. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

    Article • Science Advances, January 2022, American Association for the Advancement of Science

    Dr Jacob L McCauley

  13. Plasma Protein Levels Analysis in Multiple Sclerosis Sardinian Families Identified C9 and CYP24A1 as Candidate Biomarkers

    Article • Life, January 2022, MDPI AG

    Dr Jacob L McCauley

  14. Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant

    Article • American Journal of Medical Genetics Part A, January 2022, Wiley

    Dr Jacob L McCauley

  15. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Article • Human Mutation, December 2021, Hindawi Publishing Corporation

    Dr Jacob L McCauley

  16. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    Article • Genetics in Medicine, December 2021, Elsevier

    Dr Jacob L McCauley

  17. Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families

    Article • Current Issues in Molecular Biology, October 2021, MDPI AG

    Dr Jacob L McCauley

  18. Variable clinical severity in TANGO2 deficiency: Case series and literature review

    Article • American Journal of Medical Genetics Part A, October 2021, Wiley

    Dr Jacob L McCauley

  19. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Article • Genetics in Medicine, October 2021, Elsevier

    Dr Jacob L McCauley

  20. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

    Article • Genetics in Medicine, October 2021, Elsevier

    Dr Jacob L McCauley

  21. One is the loneliest number: genotypic matchmaking using the electronic health record

    Article • Genetics in Medicine, October 2021, Elsevier

    Dr Jacob L McCauley

  22. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Article • Genetics in Medicine, October 2021, Elsevier

    Dr Jacob L McCauley

  23. Ethnic and Racial Variation in Intracerebral Hemorrhage Risk Factors and Risk Factor Burden

    Article • JAMA Network Open, August 2021, American Medical Association (AMA)

    Dr Jacob L McCauley

  24. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation

    Article • Journal of Genetic Counseling, August 2021, Wiley

    Dr Jacob L McCauley

  25. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

    Article • Genetics in Medicine, August 2021, Elsevier

    Dr Jacob L McCauley

  26. Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research

    Article • Scientific Reports, June 2021, Springer Science + Business Media

    Dr Jacob L McCauley

  27. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

    Article • Journal of Genetic Counseling, June 2021, Wiley

    Dr Jacob L McCauley

  28. “Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

    Article • Journal of Genetic Counseling, June 2021, Wiley

    Dr Jacob L McCauley

  29. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

    Article • Genetics in Medicine, June 2021, Elsevier

    Dr Jacob L McCauley

  30. PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

    Article • Clinical Genetics, June 2021, Wiley

    Dr Jacob L McCauley

  31. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

    Article • American Journal of Medical Genetics Part A, May 2021, Wiley

    Dr Jacob L McCauley

  32. Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network

    Article • Orphanet Journal of Rare Diseases, May 2021, Springer Science + Business Media

    Dr Jacob L McCauley

  33. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

    Article • Molecular Genetics & Genomic Medicine, May 2021, Wiley

    Dr Jacob L McCauley

  34. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

    Article • Molecular Genetics & Genomic Medicine, May 2021, Wiley

    Dr Jacob L McCauley

  35. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

    Article • American Journal of Medical Genetics Part A, May 2021, Wiley

    Dr Jacob L McCauley

  36. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

    Article • Human Genetics, May 2021, Springer Science + Business Media

    Dr Philippe M Campeau, Dr Jacob L McCauley

  37. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

    Article • Genetics in Medicine, April 2021, Elsevier

    Dr Jacob L McCauley

  38. Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease

    Article • The American Journal of Human Genetics, March 2021, Elsevier

    Dr Jacob L McCauley, Michael Zwick

  39. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

    Article • Genetics in Medicine, February 2021, Elsevier

    Dr Jacob L McCauley

  40. Effectiveness of film as a health communication tool to improve perceptions and attitudes in multiple sclerosis

    Article • Multiple Sclerosis Journal - Experimental Translational and Clinical, January 2021, SAGE Publications

    Dr Jacob L McCauley

  41. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

    Article • Molecular Genetics & Genomic Medicine, November 2020, Wiley

    Dr Jacob L McCauley

  42. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice

    Article • Journal of Genetic Counseling, October 2020, Wiley

    Dr Jacob L McCauley

  43. Two genetic variants explain the association of European ancestry with multiple sclerosis risk in African-Americans

    Article • Scientific Reports, October 2020, Springer Science + Business Media

    Dr Jacob L McCauley

  44. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

    Article • Brain, August 2020, Oxford University Press (OUP)

    Dr Jacob L McCauley

  45. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS

    Article • Neurology, July 2020, Wolters Kluwer Health

    Dr Jacob L McCauley

  46. Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage

    Article • Stroke, July 2020, Wolters Kluwer Health

    Dr Jacob L McCauley

  47. Investigating the Causal Effect of Brain Expression of CCL2, NFKB1, MAPK14, TNFRSF1A, CXCL10 Genes on Multiple Sclerosis: A Two-Sample Mendelian Randomization Approach

    Article • Frontiers in Bioengineering and Biotechnology, May 2020, Frontiers

    Dr Jacob L McCauley

  48. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    Article • The American Journal of Human Genetics, April 2020, Elsevier

    Dr Jacob L McCauley

  49. Understanding Participation in Genetic Research Among Patients With Multiple Sclerosis: The Influences of Ethnicity, Gender, Education, and Age

    Article • Frontiers in Genetics, March 2020, Frontiers

    Dr Jacob L McCauley

  50. Race and ethnicity on MS presentation and disease course

    Article • Multiple Sclerosis Journal, January 2020, SAGE Publications

    Dr Jacob L McCauley

  51. A How-to Guide to Building a Robust SARS-CoV-2 Testing Program at a University-Based Health System

    Article • Academic Pathology, January 2020, Elsevier

    Dr Jacob L McCauley

  52. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

    Article • Cell, January 2020, Elsevier

    Dr Jacob L McCauley, Prof. Cristoforo Comi

  53. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Article • Biological Psychiatry, January 2020, Elsevier

    Dr Jacob L McCauley, Dr Jeremy Woods

  54. Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

    Article • Nature Neuroscience, December 2019, Springer Science + Business Media

    Dr Jacob L McCauley

  55. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

    Article • Nature Neuroscience, November 2019, Springer Science + Business Media

    Dr Jacob L McCauley

  56. Fine-Mapping Array Design for Multi-Ethnic Studies of Multiple Sclerosis

    Article • Genes, November 2019, MDPI AG

    Dr Jacob L McCauley

  57. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

    Article • Clinical Imaging, November 2019, Elsevier

    Dr Jacob L McCauley, Dr Jeremy Woods

  58. VarSight: prioritizing clinically reported variants with binary classification algorithms

    Article • BMC Bioinformatics, October 2019, Springer Science + Business Media

    Dr Jacob L McCauley, Dr Jeremy Woods

  59. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

    Article • The American Journal of Human Genetics, October 2019, Elsevier

    Dr Jacob L McCauley

  60. Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

    Article • Science, September 2019, American Association for the Advancement of Science

    Dr Jacob L McCauley, Professor Fredrik Piehl

  61. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

    Article • The American Journal of Human Genetics, September 2019, Elsevier

    Dr Jacob L McCauley

  62. The genetic diversity of multiple sclerosis risk among Hispanic and African American populations living in the United States

    Article • Multiple Sclerosis Journal, August 2019, SAGE Publications

    Dr Jacob L McCauley

  63. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

    Article • The American Journal of Human Genetics, August 2019, Elsevier

    Dr Jacob L McCauley

  64. Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

    Article • Nature Communications, July 2019, Springer Science + Business Media

    Dr Jacob L McCauley

  65. The Puerto Rico Alzheimer Disease Initiative (PRADI): A Multisource Ascertainment Approach

    Article • Frontiers in Genetics, June 2019, Frontiers

    Dr Jacob L McCauley

  66. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

    Article • The American Journal of Human Genetics, June 2019, Elsevier

    Dr Jacob L McCauley

  67. A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

    Article • Nature Communications, May 2019, Springer Science + Business Media

    Dr Jacob L McCauley

  68. Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity

    Article • JAMA Neurology, April 2019, American Medical Association (AMA)

    Dr Jacob L McCauley, Dr PAULO HENRIQUE CONDEIXA DE FRANCA

  69. Determinants of Poor Outcome after Intracerebral Hemorrhage: Ethnic/Racial Variations of Intracerebral Hemorrhage (ERICH) Study

    Article • SSRN Electronic Journal, January 2019, Elsevier

    Dr Jacob L McCauley

  70. Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations

    Article • PLoS Genetics, December 2018, PLOS

    Dr Jacob L McCauley

  71. Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

    Article • Cell, November 2018, Elsevier

    Prof. Cristoforo Comi, Dr Jacob L McCauley

  72. Native ancestry is associated with optic neuritis and age of onset in hispanics with multiple sclerosis

    Article • Annals of Clinical and Translational Neurology, September 2018, Wiley

    Dr Jacob L McCauley

  73. Hispanics Coming to the US Adopt US Cultural Behaviors and Eat Less Healthy: Implications for Development of Inflammatory Bowel Disease

    Article • Digestive Diseases and Sciences, July 2018, Springer Science + Business Media

    Dr Jacob L McCauley

  74. Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

    Article • April 2018, Cold Spring Harbor Laboratory Press

    Dr Jacob L McCauley

  75. Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

    Article • Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, March 2018, Taylor & Francis

    Dr Jacob L McCauley

  76. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Article • Neuron, March 2018, Elsevier

    Dr Jacob L McCauley

  77. Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci

    Article • Multiple Sclerosis Journal, September 2017, SAGE Publications

    Teresa Fazia, Dr Jacob L McCauley

  78. MS in self-identified Hispanic/Latino individuals living in the US

    Article • Multiple Sclerosis Journal - Experimental Translational and Clinical, September 2017, SAGE Publications

    Dr Jacob L McCauley

  79. Inflammatory bowel disease is presenting sooner after immigration in more recent US immigrants from Cuba

    Article • Alimentary Pharmacology & Therapeutics, May 2017, Wiley

    Dr Jacob L McCauley

  80. Data characterizing the ZMIZ1 molecular phenotype of multiple sclerosis

    Article • Data in Brief, April 2017, Elsevier

    Dr Jacob L McCauley

  81. Genetic Characterization and Influence on Inflammatory Bowel Disease Expression in a Diverse Hispanic South Florida Cohort

    Article • Clinical and Translational Gastroenterology, April 2017, Wolters Kluwer Health

    Dr Jacob L McCauley

  82. The autoimmune risk gene ZMIZ1 is a vitamin D responsive marker of a molecular phenotype of multiple sclerosis

    Article • Journal of Autoimmunity, March 2017, Elsevier

    Dr Jacob L McCauley

  83. A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants

    Article • Medicine, November 2016, Wolters Kluwer Health

    Dr Jacob L McCauley

  84. NR1H3 p.Arg415Gln Is Not Associated to Multiple Sclerosis Risk

    Article • Neuron, October 2016, Elsevier

    Dr Jacob L McCauley, Professor Fredrik Piehl

  85. Colorectal Tumors From Different Racial and Ethnic Minorities Have Similar Rates of Mismatch Repair Deficiency

    Article • Clinical Gastroenterology and Hepatology, August 2016, Elsevier

    Dr Jacob L McCauley

  86. European multiple sclerosis risk variants in the south Asian population

    Article • Multiple Sclerosis Journal, July 2016, SAGE Publications

    Dr Lekha Pandit, Dr Jacob L McCauley

  87. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF

    Article • Gastroenterology, July 2016, Elsevier

    Dr Yashoda Sharma, Dr Jacob L McCauley

  88. Power estimation for non-standardized multisite studies

    Article • NeuroImage, July 2016, Elsevier

    Dr Jacob L McCauley

  89. GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis

    Article • Genes & Immunity, June 2016, Springer Science + Business Media

    Dr Jacob L McCauley

  90. A catalog of HLA region SNPs with functional annotations, disease associations and correlations with HLA types

    Article • Human Immunology, October 2015, Elsevier

    Dr Jacob L McCauley

  91. Class II HLA interactions modulate genetic risk for multiple sclerosis

    Article • Nature Genetics, September 2015, Springer Science + Business Media

    Dr Jacob L McCauley

  92. Mutations inRIT1cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype

    Article • Clinical Genetics, June 2015, Wiley

    Dr Jacob L McCauley, Dr Karen W Gripp

  93. Enrichment for Northern European-derived multiple sclerosis risk alleles in Sardinia

    Article • Multiple Sclerosis Journal, April 2015, SAGE Publications

    Dr Jacob L McCauley

  94. 942 Racial/Ethnic Groupings Influence Methylation Signatures of Colorectal Cancers

    Article • Gastroenterology, April 2015, Elsevier

    Dr Jacob L McCauley

  95. An ImmunoChip study of multiple sclerosis risk in African Americans

    Article • Brain, March 2015, Oxford University Press (OUP)

    Dr Jacob L McCauley

  96. Clinical Expression of Multiple Sclerosis in Hispanic Whites of Primarily Caribbean Ancestry

    Article • Neuroepidemiology, January 2015, Karger Publishers

    Dr Jacob L McCauley

  97. Abstract B45: Microsatellite instability among disenfranchised minority colorectal cancer patients

    Article • Cancer Epidemiology Biomarkers & Prevention, November 2014, American Association for Cancer Research (AACR)

    Dr Jacob L McCauley

  98. JC Polyomavirus Infection Is Strongly Controlled by Human Leucocyte Antigen Class II Variants

    Article • PLoS Pathogens, April 2014, PLOS

    Dr Jacob L McCauley

  99. Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

    Article • The American Journal of Human Genetics, April 2014, Elsevier

    Dr Jacob L McCauley

  100. Pro-inflammatory human Th17 cells selectively express P-glycoprotein and are refractory to glucocorticoids

    Article • Journal of Experimental Medicine, January 2014, Rockefeller University Press

    Dr Jacob L McCauley

  101. Reconstructing the Population Genetic History of the Caribbean

    Article • PLoS Genetics, November 2013, PLOS

    Dr Jacob L McCauley

  102. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

    Article • Nature Genetics, September 2013, Springer Science + Business Media

    Dr Jacob L McCauley, Professor Fredrik Piehl

  103. Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients

    Article • PLOS One, June 2013, PLOS

    Professor Kjell-Morten Myhr, Dr Jacob L McCauley

  104. A “Candidate-Interactome” Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

    Article • PLOS One, May 2013, PLOS

    Professor Janusz Antoni Jankowski, Dr Jacob L McCauley

  105. Su1772 Do Hispanic Patients With a High Genetic Risk Load Develop IBD At a Younger Age?

    Article • Gastroenterology, May 2013, Elsevier

    Dr Jacob L McCauley

  106. Phenotypic Manifestations of Inflammatory Bowel Disease Differ Between Hispanics and Non-Hispanic Whites: Results of a Large Cohort Study

    Article • The American Journal of Gastroenterology, December 2012, Nature

    Dr Jacob L McCauley

  107. Copy number variation in pediatric multiple sclerosis

    Article • Multiple Sclerosis Journal, December 2012, SAGE Publications

    Dr Jacob L McCauley

  108. Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders

    Article • Annals of Human Genetics, November 2012, Wiley

    Dr Jacob L McCauley

  109. Genome-Wide Association and Linkage Study in the Amish Detects a Novel Candidate Late-Onset Alzheimer Disease Gene

    Article • Annals of Human Genetics, August 2012, Wiley

    Dr Jacob L McCauley

  110. Genetics in Diagnosing and Managing Inflammatory Bowel Disease

    Article • Gastroenterology Clinics of North America, June 2012, Elsevier

    Dr Jacob L McCauley

  111. Mitochondrial Haplogroup X is associated with successful aging in the Amish

    Article • Human Genetics, July 2011, Springer Science + Business Media

    Dr Jacob L McCauley

  112. Genome-wide study for Alzheimer’s disease in the Amish

    Article • Alzheimer s & Dementia, July 2011, Elsevier

    Dr Jacob L McCauley

  113. A Genome-Wide Linkage Screen in the Amish with Parkinson Disease Points to Chromosome 6

    Article • Annals of Human Genetics, April 2011, Wiley

    Dr Jacob L McCauley

  114. A Major Histocompatibility Class I Locus Contributes to Multiple Sclerosis Susceptibility Independently from HLA-DRB1*15:01

    Article • PLOS One, June 2010, PLOS

    Dr Jacob L McCauley

  115. Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility

    Article • Human Genetics, January 2010, Springer Science + Business Media

    Dr Jacob L McCauley

  116. Genome-wide association study for dementia in the midwestern US Amish

    Article • Alzheimer s & Dementia, July 2009, Elsevier

    Dr Jacob L McCauley

  117. A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

    Article • Annals of Human Genetics, May 2009, Wiley

    Dr Jacob L McCauley

  118. Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

    Article • European Journal of Human Genetics, March 2009, Nature

    Dr Jacob L McCauley

  119. The expanding genetic overlap between multiple sclerosis and type I diabetes

    Article • Genes & Immunity, November 2008, Nature

    Dr Jacob L McCauley

  120. P3-225: Whole-genome SNP linkage screen for dementia in the midwestern U.S. Amish

    Article • Alzheimer s & Dementia, July 2008, Elsevier

    Dr Jacob L McCauley

  121. Interleukin 7 receptor α chain (IL7R) shows allelic and functional association with multiple sclerosis

    Article • Nature Genetics, July 2007, Nature

    Dr Jacob L McCauley

  122. SNPs in Multi-Species Conserved Sequences (MCS) as useful markers in association studies: a practical approach

    Article • BMC Genomics, January 2007, Springer Science + Business Media

    Dr Jacob L McCauley

  123. P1-287

    Article • Alzheimer s & Dementia, July 2006, Elsevier

    Dr Jacob L McCauley

  124. Lack of Association Between Autism andSLC25A12

    Article • American Journal of Psychiatry, May 2006, American Psychiatric Association

    Dr Jacob L McCauley

  125. A genome-wide linkage analysis of dementia in the Amish

    Article • American Journal of Medical Genetics Part B Neuropsychiatric Genetics, March 2006, Wiley

    Dr Jacob L McCauley

  126. Allelic Heterogeneity at the Serotonin Transporter Locus (SLC6A4) Confers Susceptibility to Autism and Rigid-Compulsive Behaviors

    Article • The American Journal of Human Genetics, August 2005, Elsevier

    Dr Jacob L McCauley

  127. A linkage disequilibrium map of the 1-Mb 15q12 GABAAreceptor subunit cluster and association to autism

    Article • American Journal of Medical Genetics, November 2004, Wiley

    Dr Jacob L McCauley

  128. Dense linkage disequilibrium mapping in the 15q11–q13 maternal expression domain yields evidence for association in autism

    Article • Molecular Psychiatry, January 2003, Nature

    Dr Jacob L McCauley