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Articles published in Am J Hum Genet

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Single Articles


    December 2017
  1. 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     Text format     Abstract available


    November 2017
  2. 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     Text format     Abstract available


  3. 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     Text format     Abstract available


  4. 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     Text format     Abstract available


    October 2017
  5. 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     Text format     Abstract available


    September 2017
  6. 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     Text format     Abstract available


    August 2017
  7. 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     Text format     Abstract available


  8. 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     Text format     Abstract available


    July 2017
  9. 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     Text format     Abstract available


    June 2017
  10. 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     Text format     Abstract available


  11. 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     Text format     Abstract available


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


  13. 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     Text format     Abstract available


  14. 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.
    PubMed     Text format     Abstract available


  15. 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     Text format     Abstract available


    April 2017
  16. 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     Text format     Abstract available


  17. 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.
    PubMed     Text format     Abstract available


  18. 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.
    PubMed     Text format     Abstract available


    March 2017
  19. 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     Text format     Abstract available


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


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


  22. 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     Text format    


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


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


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


  26. 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     Text format    


    February 2017
  27. 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     Text format     Abstract available


  28. 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.
    PubMed     Text format     Abstract available


  29. 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.
    PubMed     Text format     Abstract available


  30. 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.
    PubMed     Text format     Abstract available


    January 2017
  31. 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.
    PubMed     Text format     Abstract available


    September 2016
  32. 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     Text format     Abstract available


    April 2016
  33. CHEN H, Wang C, Conomos MP, Stilp AM, et al
    Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models.
    Am J Hum Genet. 2016;98:653-66.
    PubMed     Text format     Abstract available


    March 2016
  34. VATTATHIL S, Scheet P
    Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue.
    Am J Hum Genet. 2016;98:571-8.
    PubMed     Text format     Abstract available


  35. DARNELL AJ, Austin H, Bluemke DA, Cannon RO 3rd, et al
    A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.
    Am J Hum Genet. 2016;98:435-41.
    PubMed     Text format     Abstract available


  36. SCRIVER CR
    2015 Victor A. McKusick Leadership Award.
    Am J Hum Genet. 2016;98:433-4.
    PubMed     Text format    


  37. KRUGLYAK L
    2015 Curt Stern Award.
    Am J Hum Genet. 2016;98:428-30.
    PubMed     Text format    


  38. DAVIES KE
    2015 William Allan Award.
    Am J Hum Genet. 2016;98:419-26.
    PubMed     Text format    


  39. GALINSKY KJ, Bhatia G, Loh PR, Georgiev S, et al
    Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia.
    Am J Hum Genet. 2016;98:456-72.
    PubMed     Text format     Abstract available


    February 2016
  40. AYUB Q, Mezzavilla M, Pagani L, Haber M, et al
    Response to Hellenthal et al.
    Am J Hum Genet. 2016;98:398.
    PubMed     Text format    


  41. HELLENTHAL G, Falush D, Myers S, Reich D, et al
    The Kalash Genetic Isolate? The Evidence for Recent Admixture.
    Am J Hum Genet. 2016;98:396-7.
    PubMed     Text format    


  42. ZHAO J, Akinsanmi I, Arafat D, Cradick TJ, et al
    A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood.
    Am J Hum Genet. 2016;98:299-309.
    PubMed     Text format     Abstract available


  43. CHENG C, Zhou Y, Li H, Xiong T, et al
    Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma.
    Am J Hum Genet. 2016;98:256-74.
    PubMed     Text format     Abstract available


    November 2015
  44. YUAN B, Harel T, Gu S, Liu P, et al
    Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
    Am J Hum Genet. 2015;97:691-707.
    PubMed     Text format     Abstract available


  45. TUCKER G, Loh PR, MacLeod IM, Hayes BJ, et al
    Two-Variance-Component Model Improves Genetic Prediction in Family Datasets.
    Am J Hum Genet. 2015;97:677-90.
    PubMed     Text format     Abstract available


    October 2015
  46. KALANTRY S, Mueller JL
    Mary Lyon: A Tribute.
    Am J Hum Genet. 2015;97:507-10.
    PubMed     Text format    


    September 2015
  47. BROWNING SR, Browning BL
    Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent.
    Am J Hum Genet. 2015;97:404-18.
    PubMed     Text format     Abstract available


    August 2015
  48. KICHAEV G, Pasaniuc B
    Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies.
    Am J Hum Genet. 2015;97:260-71.
    PubMed     Text format     Abstract available


  49. CHONG JX, Buckingham KJ, Jhangiani SN, Boehm C, et al
    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
    Am J Hum Genet. 2015;97:199-215.
    PubMed     Text format     Abstract available


    July 2015
  50. BOTKIN JR, Belmont JW, Berg JS, Berkman BE, et al
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.
    Am J Hum Genet. 2015;97:6-21.
    PubMed     Text format     Abstract available


  51. GROZA T, Kohler S, Moldenhauer D, Vasilevsky N, et al
    The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
    Am J Hum Genet. 2015;97:111-24.
    PubMed     Text format     Abstract available


  52. LOU H, Lu Y, Lu D, Fu R, et al
    A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence.
    Am J Hum Genet. 2015;97:54-66.
    PubMed     Text format     Abstract available


    May 2015
  53. ZHAO N, Chen J, Carroll IM, Ringel-Kulka T, et al
    Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test.
    Am J Hum Genet. 2015;96:797-807.
    PubMed     Text format     Abstract available


  54. AYUB Q, Mezzavilla M, Pagani L, Haber M, et al
    The Kalash genetic isolate: ancient divergence, drift, and selection.
    Am J Hum Genet. 2015;96:775-83.
    PubMed     Text format     Abstract available


    March 2015
  55. VALLE D
    2014 Victor A. McKusick Leadership Award.
    Am J Hum Genet. 2015;96:374-6.
    PubMed     Text format    


  56. MCINNES RR
    2014 Victor A. McKusick Leadership Award introduction: David Valle.
    Am J Hum Genet. 2015;96:372-3.
    PubMed     Text format    


  57. DALY MJ
    2014 Curt Stern Award: A tryst with genetics.
    Am J Hum Genet. 2015;96:369-71.
    PubMed     Text format    


  58. PALOTIE A
    2014 Curt Stern Award introduction: Mark Daly.
    Am J Hum Genet. 2015;96:367-8.
    PubMed     Text format    


  59. ABECASIS GR
    2014 Curt Stern Award: Adventures in human genetics.
    Am J Hum Genet. 2015;96:363-6.
    PubMed     Text format    


  60. BOEHNKE M
    2014 Curt Stern Award introduction: Goncalo Abecasis.
    Am J Hum Genet. 2015;96:361-2.
    PubMed     Text format    


  61. ORKIN SH
    2014 William Allan Award: A hematologist's pursuit of hemoglobin genetics.
    Am J Hum Genet. 2015;96:354-60.
    PubMed     Text format    


  62. KAZAZIAN HH JR
    2014 William Allan Award introduction: Stuart Orkin.
    Am J Hum Genet. 2015;96:352-3.
    PubMed     Text format    


  63. MORTON CC
    2014 Presidential Address: The time of our lives.
    Am J Hum Genet. 2015;96:347-51.
    PubMed     Text format    


  64. KIM BY, Lohmueller KE
    Selection and reduced population size cannot explain higher amounts of Neandertal ancestry in East Asian than in European human populations.
    Am J Hum Genet. 2015;96:454-61.
    PubMed     Text format     Abstract available


  65. VERNOT B, Akey JM
    Complex history of admixture between modern humans and Neandertals.
    Am J Hum Genet. 2015;96:448-53.
    PubMed     Text format     Abstract available


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