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Articles published in Am J Hum Genet

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Single Articles


    May 2021
  1. BYERS PH
    2020 McKusick Award address.
    Am J Hum Genet. 2021;108:761-763.
    PubMed     Abstract available


  2. TSAI YT, Li Y, Ryu J, Su PY, et al
    Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration.
    Am J Hum Genet. 2021;108:903-918.
    PubMed     Abstract available


  3. LEWIS KL, Turbitt E, Chan PA, Epps S, et al
    Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.
    Am J Hum Genet. 2021;108:894-902.
    PubMed     Abstract available


  4. ZHAO X, Collins RL, Lee WP, Weber AM, et al
    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
    Am J Hum Genet. 2021;108:919-928.
    PubMed     Abstract available


    April 2021
  5. MCINNES G, Sharo AG, Koleske ML, Brown JEH, et al
    Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
    Am J Hum Genet. 2021;108:535-548.
    PubMed     Abstract available


  6. MARTIN AR, Atkinson EG, Chapman SB, Stevenson A, et al
    Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
    Am J Hum Genet. 2021;108:656-668.
    PubMed     Abstract available


  7. DURVASULA A, Lohmueller KE
    Negative selection on complex traits limits phenotype prediction accuracy between populations.
    Am J Hum Genet. 2021;108:620-631.
    PubMed     Abstract available


    March 2021

  8. How science will help us move forward in 2021.
    Am J Hum Genet. 2021;108:371-372.
    PubMed     Abstract available


  9. ALKURAYA FS
    2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.
    Am J Hum Genet. 2021;108:395-399.
    PubMed     Abstract available


  10. MORTON CC
    ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.
    Am J Hum Genet. 2021;108:392-394.
    PubMed     Abstract available


  11. KING MC
    2020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.
    Am J Hum Genet. 2021;108:386-391.
    PubMed     Abstract available


  12. EICHLER EE
    2020 William Allan Award introduction: Mary-Claire King.
    Am J Hum Genet. 2021;108:383-385.
    PubMed     Abstract available


  13. WYNSHAW-BORIS A
    2020 ASHG presidential address: the 'BIG TENT' of genetics/genomics and our world.
    Am J Hum Genet. 2021;108:375-382.
    PubMed     Abstract available


  14. DRIVAS TG, Lucas A, Zhang X, Ritchie MD, et al
    Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.
    Am J Hum Genet. 2021;108:482-501.
    PubMed     Abstract available


  15. SELVARAJAN I, Toropainen A, Garske KM, Lopez Rodriguez M, et al
    Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease.
    Am J Hum Genet. 2021;108:411-430.
    PubMed     Abstract available


  16. ROBINS C, Liu Y, Fan W, Duong DM, et al
    Genetic control of the human brain proteome.
    Am J Hum Genet. 2021;108:400-410.
    PubMed     Abstract available


    February 2021
  17. LAGLER TM, Abnousi A, Hu M, Yang Y, et al
    HiC-ACT: improved detection of chromatin interactions from Hi-C data via aggregated Cauchy test.
    Am J Hum Genet. 2021;108:257-268.
    PubMed     Abstract available


  18. MILLER D
    The diagnostic odyssey: our family's story.
    Am J Hum Genet. 2021;108:217-218.
    PubMed     Abstract available


    January 2021
  19. BIESECKER LG, Adam MP, Alkuraya FS, Amemiya AR, et al
    A dyadic approach to the delineation of diagnostic entities in clinical genomics.
    Am J Hum Genet. 2021;108:8-15.
    PubMed     Abstract available


  20. BONHAM VL, Green ED
    The genomics workforce must become more diverse: a strategic imperative.
    Am J Hum Genet. 2021;108:3-7.
    PubMed     Abstract available


  21. DJORDJEVIC D, Pinard M, Gauthier MS, Smith-Hicks C, et al
    De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
    Am J Hum Genet. 2021;108:186-193.
    PubMed     Abstract available


    December 2020
  22. RODGER C, Flex E, Allison RJ, Sanchis-Juan A, et al
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
    Am J Hum Genet. 2020;107:1129-1148.
    PubMed     Abstract available


  23. TORRES JM, Abdalla M, Payne A, Fernandez-Tajes J, et al
    A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes.
    Am J Hum Genet. 2020;107:1011-1028.
    PubMed     Abstract available


    November 2020
  24. LYNCH JA, Goldenberg AJ, Garrison NA, Brothers KB, et al
    Analogies in Genomics Policymaking: Debates and Drawbacks.
    Am J Hum Genet. 2020;107:797-801.
    PubMed     Abstract available


  25. AMENDOLA LM, Muenzen K, Biesecker LG, Bowling KM, et al
    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
    Am J Hum Genet. 2020;107:932-941.
    PubMed     Abstract available


  26. OWEN KA, Price A, Ainsworth H, Aidukaitis BN, et al
    Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries.
    Am J Hum Genet. 2020;107:864-881.
    PubMed     Abstract available


  27. FRITSCHE LG, Patil S, Beesley LJ, VandeHaar P, et al
    Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
    Am J Hum Genet. 2020;107:815-836.
    PubMed     Abstract available


    October 2020
  28. PATRINOS GP, Pasparakis E, Koiliari E, Pereira AC, et al
    Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.
    Am J Hum Genet. 2020;107:589-595.
    PubMed     Abstract available


  29. RAGSDALE AP, Nelson D, Gravel S, Kelleher J, et al
    Lessons Learned from Bugs in Models of Human History.
    Am J Hum Genet. 2020;107:583-588.
    PubMed     Abstract available


  30. MIDDLETON A, Milne R, Almarri MA, Anwer S, et al
    Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
    Am J Hum Genet. 2020;107:743-752.
    PubMed     Abstract available


  31. BEESLEY J, Sivakumaran H, Moradi Marjaneh M, Shi W, et al
    eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.
    Am J Hum Genet. 2020;107:778-787.
    PubMed     Abstract available


  32. GALER PD, Ganesan S, Lewis-Smith D, McKeown SE, et al
    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
    Am J Hum Genet. 2020;107:683-697.
    PubMed     Abstract available


    September 2020

  33. Advancing Diverse Participation in Research with Special Consideration for Vulnerable Populations.
    Am J Hum Genet. 2020;107:379-380.
    PubMed     Abstract available


  34. MULINDWA J, Noyes H, Ilboudo H, Pagani L, et al
    High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
    Am J Hum Genet. 2020;107:473-486.
    PubMed     Abstract available


  35. DEMIRDJIAN L, Xu Y, Bahrami-Samani E, Pan Y, et al
    Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data.
    Am J Hum Genet. 2020;107:461-472.
    PubMed     Abstract available


  36. ROBINSON PN, Ravanmehr V, Jacobsen JOB, Danis D, et al
    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
    Am J Hum Genet. 2020;107:403-417.
    PubMed     Abstract available


    August 2020
  37. EASTEAL S, Arkell RM, Balboa RF, Bellingham SA, et al
    Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
    Am J Hum Genet. 2020;107:175-182.
    PubMed     Abstract available


  38. KIM HI, Ye B, Gosalia N, Koroglu C, et al
    Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
    Am J Hum Genet. 2020;107:251-264.
    PubMed     Abstract available


  39. ZHANG Y, Yang HT, Kadash-Edmondson K, Pan Y, et al
    Regional Variation of Splicing QTLs in Human Brain.
    Am J Hum Genet. 2020;107:196-210.
    PubMed     Abstract available


    July 2020
  40. KATZ AE, Nussbaum RL, Solomon BD, Rehm HL, et al
    Management of Secondary Genomic Findings.
    Am J Hum Genet. 2020;107:3-14.
    PubMed     Abstract available


  41. ZHOU Y, Browning BL, Browning SR
    Population-Specific Recombination Maps from Segments of Identity by Descent.
    Am J Hum Genet. 2020;107:137-148.
    PubMed     Abstract available


  42. CHEN M, Sidore C, Akiyama M, Ishigaki K, et al
    Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan.
    Am J Hum Genet. 2020;107:60-71.
    PubMed     Abstract available


  43. POPEJOY AB, Crooks KR, Fullerton SM, Hindorff LA, et al
    Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
    Am J Hum Genet. 2020;107:72-82.
    PubMed     Abstract available


  44. HABER M, Nassar J, Almarri MA, Saupe T, et al
    A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.
    Am J Hum Genet. 2020;107:149-157.
    PubMed     Abstract available


    June 2020
  45. BAMSHAD MJ, Korf BR
    The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family.
    Am J Hum Genet. 2020;106:727-728.
    PubMed    


  46. KIBINGE NK, Relton CL, Gaunt TR, Richardson TG, et al
    Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data.
    Am J Hum Genet. 2020;106:885-892.
    PubMed     Abstract available


    May 2020
  47. VITSIOS D, Petrovski S
    Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.
    Am J Hum Genet. 2020;106:659-678.
    PubMed     Abstract available


  48. DEBOEVER C, Tanigawa Y, Aguirre M, McInnes G, et al
    Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases.
    Am J Hum Genet. 2020;106:611-622.
    PubMed     Abstract available


    April 2020
  49. XU D, Wang C, Kiryluk K, Buxbaum JD, et al
    Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.
    Am J Hum Genet. 2020;106:513-524.
    PubMed     Abstract available


  50. ZHOU Y, Browning SR, Browning BL
    A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data.
    Am J Hum Genet. 2020;106:426-437.
    PubMed     Abstract available


    March 2020
  51. DAI CL, Vazifeh MM, Yeang CH, Tachet R, et al
    Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis.
    Am J Hum Genet. 2020;106:371-388.
    PubMed     Abstract available


    February 2020
  52. BOYCOTT KM, Campeau PM, Howley HE, Pavlidis P, et al
    The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
    Am J Hum Genet. 2020;106:143-152.
    PubMed     Abstract available


    January 2020
  53. DAHL A, Nguyen K, Cai N, Gandal MJ, et al
    A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits.
    Am J Hum Genet. 2020;106:71-91.
    PubMed     Abstract available


  54. ZHAO Z, Bi W, Zhou W, VandeHaar P, et al
    UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test.
    Am J Hum Genet. 2020;106:3-12.
    PubMed     Abstract available


    December 2019
  55. WALL JD, Ratan A, Stawiski E
    Identification of African-Specific Admixture between Modern and Archaic Humans.
    Am J Hum Genet. 2019;105:1254-1261.
    PubMed     Abstract available


  56. BI W, Zhao Z, Dey R, Fritsche LG, et al
    A Fast and Accurate Method for Genome-wide Scale Phenome-wide G x E Analysis and Its Application to UK Biobank.
    Am J Hum Genet. 2019;105:1182-1192.
    PubMed     Abstract available


    November 2019
  57. HANSEN AW, Murugan M, Li H, Khayat MM, et al
    A Genocentric Approach to Discovery of Mendelian Disorders.
    Am J Hum Genet. 2019;105:974-986.
    PubMed     Abstract available


    August 2019
  58. MANOLIO TA
    Using the Data We Have: Improving Diversity in Genomic Research.
    Am J Hum Genet. 2019;105:233-236.
    PubMed     Abstract available


  59. AGUIRRE M, Rivas MA, Priest J
    Phenome-wide Burden of Copy-Number Variation in the UK Biobank.
    Am J Hum Genet. 2019;105:373-383.
    PubMed     Abstract available


  60. JOSEPH TA, Pe'er I
    Inference of Population Structure from Time-Series Genotype Data.
    Am J Hum Genet. 2019;105:317-333.
    PubMed     Abstract available


    July 2019
  61. STARK Z, Boughtwood T, Phillips P, Christodoulou J, et al
    Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
    Am J Hum Genet. 2019;105:7-14.
    PubMed     Abstract available


  62. RAFEHI H, Szmulewicz DJ, Bennett MF, Sobreira NLM, et al
    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
    Am J Hum Genet. 2019;105:151-165.
    PubMed     Abstract available


  63. PEHLIVAN D, Bayram Y, Gunes N, Coban Akdemir Z, et al
    The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
    Am J Hum Genet. 2019;105:132-150.
    PubMed     Abstract available


  64. DIMITROMANOLAKIS A, Paterson AD, Sun L
    Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE.
    Am J Hum Genet. 2019;105:78-88.
    PubMed     Abstract available


    June 2019
  65. KERMINEN S, Martin AR, Koskela J, Ruotsalainen SE, et al
    Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland.
    Am J Hum Genet. 2019;104:1169-1181.
    PubMed     Abstract available


  66. SILVERT M, Quintana-Murci L, Rotival M
    Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation.
    Am J Hum Genet. 2019;104:1241-1250.
    PubMed     Abstract available


  67. HOROWITZ CR, Orlando LA, Slavotinek AM, Peterson J, et al
    The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
    Am J Hum Genet. 2019;104:1088-1096.
    PubMed     Abstract available


  68. ZHONG Y, Perera MA, Gamazon ER
    On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations.
    Am J Hum Genet. 2019;104:1097-1115.
    PubMed     Abstract available


    May 2019
  69. BIRNEY E
    The Convergence of Research and Clinical Genomics.
    Am J Hum Genet. 2019;104:781-783.
    PubMed    


  70. HABER M, Doumet-Serhal C, Scheib CL, Xue Y, et al
    A Transient Pulse of Genetic Admixture from the Crusaders in the Near East Identified from Ancient Genome Sequences.
    Am J Hum Genet. 2019;104:977-984.
    PubMed     Abstract available


  71. AMARIUTA T, Luo Y, Gazal S, Davenport EE, et al
    IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors.
    Am J Hum Genet. 2019;104:879-895.
    PubMed     Abstract available


    April 2019

  72. Response to Tibayrenc: On the ASHG Perspective on Genetics and Racial Supremacy.
    Am J Hum Genet. 2019;104:776.
    PubMed    


  73. BOMBARD Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, et al
    The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.
    Am J Hum Genet. 2019;104:578-595.
    PubMed     Abstract available


  74. ZEPEDA-MENDOZA CJ, Morton CC
    The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.
    Am J Hum Genet. 2019;104:565-577.
    PubMed     Abstract available


  75. FARAZI FARD MA, Rebelo AP, Buglo E, Nemati H, et al
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
    Am J Hum Genet. 2019;104:767-773.
    PubMed     Abstract available


  76. AREF-ESHGHI E, Bend EG, Colaiacovo S, Caudle M, et al
    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
    Am J Hum Genet. 2019;104:685-700.
    PubMed     Abstract available


  77. HUJOEL MLA, Gazal S, Hormozdiari F, van de Geijn B, et al
    Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species.
    Am J Hum Genet. 2019;104:611-624.
    PubMed     Abstract available


    March 2019
  78. GINSBURG GS
    A Global Collaborative to Advance Genomic Medicine.
    Am J Hum Genet. 2019;104:407-409.
    PubMed    


  79. LUPSKI JR
    2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.
    Am J Hum Genet. 2019;104:391-406.
    PubMed    


  80. VALLE D
    2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski.
    Am J Hum Genet. 2019;104:389-390.
    PubMed    


  81. KATHIRESAN S
    2018 Curt Stern Award Address.
    Am J Hum Genet. 2019;104:384-388.
    PubMed     Abstract available


  82. LANDER ES
    2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations.
    Am J Hum Genet. 2019;104:375-383.
    PubMed    


  83. DALY MJ
    2018 William Allan Award Introduction: Eric S. Lander.
    Am J Hum Genet. 2019;104:373-374.
    PubMed    


  84. NELSON DL
    2018 Presidential Address: Who Are We?
    Am J Hum Genet. 2019;104:363-372.
    PubMed    


  85. UNLU G, Gamazon ER, Qi X, Levic DS, et al
    GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.
    Am J Hum Genet. 2019;104:503-519.
    PubMed     Abstract available


  86. LAVAL G, Peyregne S, Zidane N, Harmant C, et al
    Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure.
    Am J Hum Genet. 2019;104:553-561.
    PubMed     Abstract available


  87. GRINDE KE, Brown LA, Reiner AP, Thornton TA, et al
    Genome-wide Significance Thresholds for Admixture Mapping Studies.
    Am J Hum Genet. 2019;104:454-465.
    PubMed     Abstract available


    February 2019
  88. KLEIN WMP, McBride CM, Allen CG, Arredondo EM, et al
    Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics.
    Am J Hum Genet. 2019;104:193-196.
    PubMed     Abstract available


  89. WRIGHT CF, West B, Tuke M, Jones SE, et al
    Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
    Am J Hum Genet. 2019;104:275-286.
    PubMed     Abstract available


  90. CHEN H, Huffman JE, Brody JA, Wang C, et al
    Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.
    Am J Hum Genet. 2019;104:260-274.
    PubMed     Abstract available


    January 2019
  91. CEYHAN-BIRSOY O, Murry JB, Machini K, Lebo MS, et al
    Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
    Am J Hum Genet. 2019;104:76-93.
    PubMed     Abstract available



  92. Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness.
    Am J Hum Genet. 2019;104:6-7.
    PubMed     Abstract available


  93. STARK Z, Dolman L, Manolio TA, Ozenberger B, et al
    Integrating Genomics into Healthcare: A Global Responsibility.
    Am J Hum Genet. 2019;104:13-20.
    PubMed     Abstract available


  94. VERMA A, Bang L, Miller JE, Zhang Y, et al
    Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.
    Am J Hum Genet. 2019;104:55-64.
    PubMed     Abstract available


    June 2018
  95. FRITSCHE LG, Gruber SB, Wu Z, Schmidt EM, et al
    Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.
    Am J Hum Genet. 2018;102:1048-1061.
    PubMed     Abstract available


    May 2018
  96. SU YR, Di C, Bien S, Huang L, et al
    A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.
    Am J Hum Genet. 2018;102:904-919.
    PubMed     Abstract available


  97. STAPLES J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, et al
    Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
    Am J Hum Genet. 2018;102:874-889.
    PubMed     Abstract available


  98. RETSHABILE G, Mlotshwa BC, Williams L, Mwesigwa S, et al
    Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.
    Am J Hum Genet. 2018;102:731-743.
    PubMed     Abstract available


  99. MARTIN AR, Karczewski KJ, Kerminen S, Kurki MI, et al
    Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
    Am J Hum Genet. 2018;102:760-775.
    PubMed     Abstract available


    April 2018
  100. PEMBERTON TJ, Szpiech ZA
    Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project.
    Am J Hum Genet. 2018;102:658-675.
    PubMed     Abstract available


  101. LEWIS KL, Umstead KL, Johnston JJ, Miller IM, et al
    Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.
    Am J Hum Genet. 2018;102:540-546.
    PubMed     Abstract available


    March 2018
  102. KATSANIS N
    2017 Curt Stern Award: The Complexity of Simple Genetics.
    Am J Hum Genet. 2018;102:355-358.
    PubMed    


  103. BRUNNER HG
    2017 Curt Stern Award Introduction: Nico Katsanis.
    Am J Hum Genet. 2018;102:354.
    PubMed    


  104. STEFANSSON K
    2017 William Allan Award.
    Am J Hum Genet. 2018;102:351-353.
    PubMed    


  105. DALY MJ
    2017 William Allan Award Introduction: Kari Stefansson.
    Am J Hum Genet. 2018;102:350.
    PubMed    


  106. COX NJ
    2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.
    Am J Hum Genet. 2018;102:342-349.
    PubMed    



  107. 2017 ASHG Awards and Addresses.
    Am J Hum Genet. 2018;102:340-341.
    PubMed     Abstract available


    February 2018
  108. BOZAL-BASTERRA L, Martin-Ruiz I, Pirone L, Liang Y, et al
    Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
    Am J Hum Genet. 2018;102:249-265.
    PubMed     Abstract available


    January 2018
  109. BRUCATO N, Fernandes V, Mazieres S, Kusuma P, et al
    The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor.
    Am J Hum Genet. 2018;102:58-68.
    PubMed     Abstract available


  110. EVANS BJ
    HIPAA's Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights.
    Am J Hum Genet. 2018;102:5-10.
    PubMed     Abstract available


  111. PARK E, Pan Z, Zhang Z, Lin L, et al
    The Expanding Landscape of Alternative Splicing Variation in Human Populations.
    Am J Hum Genet. 2018;102:11-26.
    PubMed     Abstract available


    December 2017
  112. LASO-JADART R, Harmant C, Quach H, Zidane N, et al
    The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.
    Am J Hum Genet. 2017;101:977-984.
    PubMed     Abstract available


    November 2017
  113. SHI H, Mancuso N, Spendlove S, Pasaniuc B, et al
    Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits.
    Am J Hum Genet. 2017;101:737-751.
    PubMed     Abstract available


  114. FORTES-LIMA C, Gessain A, Ruiz-Linares A, Bortolini MC, et al
    Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname.
    Am J Hum Genet. 2017;101:725-736.
    PubMed     Abstract available


  115. TANG H, Kirkness EF, Lippert C, Biggs WH, et al
    Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
    Am J Hum Genet. 2017;101:700-715.
    PubMed     Abstract available


    October 2017
  116. QUINODOZ M, Royer-Bertrand B, Cisarova K, Di Gioia SA, et al
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
    Am J Hum Genet. 2017;101:623-629.
    PubMed     Abstract available


    September 2017
  117. LOPEZ S, Thomas MG, van Dorp L, Ansari-Pour N, et al
    The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection.
    Am J Hum Genet. 2017;101:353-368.
    PubMed     Abstract available


    August 2017
  118. LAKE NJ, Webb BD, Stroud DA, Richman TR, et al
    Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
    Am J Hum Genet. 2017;101:239-254.
    PubMed     Abstract available


  119. HABER M, Doumet-Serhal C, Scheib C, Xue Y, et al
    Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.
    Am J Hum Genet. 2017;101:274-282.
    PubMed     Abstract available


    July 2017
  120. DEY R, Schmidt EM, Abecasis GR, Lee S, et al
    A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS.
    Am J Hum Genet. 2017;101:37-49.
    PubMed     Abstract available


    June 2017
  121. GABRIELE M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, et al
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
    Am J Hum Genet. 2017;100:907-925.
    PubMed     Abstract available


  122. STRANDE NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, et al
    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
    Am J Hum Genet. 2017;100:895-906.
    PubMed     Abstract available


    May 2017
  123. WALL JD
    Inferring Human Demographic Histories of Non-African Populations from Patterns of Allele Sharing.
    Am J Hum Genet. 2017;100:766-772.
    PubMed     Abstract available


  124. LEE M, Roos P, Sharma N, Atalar M, et al
    Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
    Am J Hum Genet. 2017;100:751-765.
    PubMed     Abstract available


  125. NGCUNGCU T, Oti M, Sitek JC, Haukanes BI, et al
    Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
    Am J Hum Genet. 2017;100:737-750.
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  126. ZHANG Q, Peng C, Song J, Zhang Y, et al
    Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
    Am J Hum Genet. 2017;100:817-823.
    PubMed     Abstract available


    April 2017
  127. MARTIN AR, Gignoux CR, Walters RK, Wojcik GL, et al
    Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
    Am J Hum Genet. 2017;100:635-649.
    PubMed     Abstract available


  128. YAO C, Joehanes R, Johnson AD, Huan T, et al
    Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits.
    Am J Hum Genet. 2017;100:571-580.
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  129. BRYNEDAL B, Choi J, Raj T, Bjornson R, et al
    Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.
    Am J Hum Genet. 2017;100:581-591.
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    March 2017
  130. SANDERSON SC, Brothers KB, Mercaldo ND, Clayton EW, et al
    Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US.
    Am J Hum Genet. 2017;100:414-427.
    PubMed     Abstract available


  131. GARTLER SM
    2016 Victor A. McKusick Leadership Award.
    Am J Hum Genet. 2017;100:403-405.
    PubMed    


  132. JARVIK GP
    2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler.
    Am J Hum Genet. 2017;100:401-402.
    PubMed    


  133. LEE B
    2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.
    Am J Hum Genet. 2017;100:397-400.
    PubMed    


  134. BEAUDET AL
    2016 Curt Stern Award Introduction: Brendan Lee.
    Am J Hum Genet. 2017;100:395-396.
    PubMed    


  135. GUSELLA JF
    2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.
    Am J Hum Genet. 2017;100:387-394.
    PubMed    


  136. NELSON DL
    2016 William Allan Award Introduction: James Gusella.
    Am J Hum Genet. 2017;100:385-386.
    PubMed    


  137. DIETZ HC
    2016 Presidential Address: Let's Make Human Genetics Great (Again): The Importance of Beauty in Science.
    Am J Hum Genet. 2017;100:379-384.
    PubMed    


    February 2017
  138. LI Q, Wang K
    InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
    Am J Hum Genet. 2017;100:267-280.
    PubMed     Abstract available


  139. MORRISON AC, Huang Z, Yu B, Metcalf G, et al
    Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.
    Am J Hum Genet. 2017;100:205-215.
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  140. WAN Z, Vorobeychik Y, Xia W, Clayton EW, et al
    Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach.
    Am J Hum Genet. 2017;100:316-322.
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  141. LLOYD-JONES LR, Holloway A, McRae A, Yang J, et al
    The Genetic Architecture of Gene Expression in Peripheral Blood.
    Am J Hum Genet. 2017;100:228-237.
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    January 2017
  142. SHEN Q, Cheng F, Song H, Lu W, et al
    Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes.
    Am J Hum Genet. 2017;100:5-20.
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    September 2016
  143. LU D, Lou H, Yuan K, Wang X, et al
    Ancestral Origins and Genetic History of Tibetan Highlanders.
    Am J Hum Genet. 2016;99:580-94.
    PubMed     Abstract available


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