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Articles published in Am J Hum Genet

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Single Articles


    June 2022
  1. APPELBAUM PS, Burke W, Parens E, Zeevi DA, et al
    Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
    Am J Hum Genet. 2022;109:981-988.
    PubMed     Abstract available


  2. GUERRA G, Kachuri L, Wendt G, Hansen HM, et al
    The immunogenetics of viral antigen response is associated with subtype-specific glioma risk and survival.
    Am J Hum Genet. 2022;109:1105-1116.
    PubMed     Abstract available


    May 2022
  3. FAN C, Mancuso N, Chiang CWK
    A genealogical estimate of genetic relationships.
    Am J Hum Genet. 2022;109:812-824.
    PubMed     Abstract available


    April 2022
  4. CHIU AM, Molloy EK, Tan Z, Talwalkar A, et al
    Inferring population structure in biobank-scale genomic data.
    Am J Hum Genet. 2022;109:727-737.
    PubMed     Abstract available


  5. NOYES MD, Harvey WT, Porubsky D, Sulovari A, et al
    Familial long-read sequencing increases yield of de novo mutations.
    Am J Hum Genet. 2022;109:631-646.
    PubMed     Abstract available


  6. CUADROS-ESPINOZA S, Laval G, Quintana-Murci L, Patin E, et al
    The genomic signatures of natural selection in admixed human populations.
    Am J Hum Genet. 2022;109:710-726.
    PubMed     Abstract available


    March 2022
  7. BURKE W
    2021 McKusick Leadership Award: Learning from communities.
    Am J Hum Genet. 2022;109:390-392.
    PubMed     Abstract available


  8. DERMITZAKIS ET
    2021 Curt Stern Award: Studying the biology of "junk".
    Am J Hum Genet. 2022;109:387-389.
    PubMed     Abstract available


  9. CASKEY CT
    2021 Allan Award.
    Am J Hum Genet. 2022;109:384-386.
    PubMed     Abstract available


  10. JARVIK GP
    2021 ASHG presidential address-Imagination and daring: Past, present, and future.
    Am J Hum Genet. 2022;109:381-383.
    PubMed     Abstract available



  11. 2021 ASHG awards and addresses.
    Am J Hum Genet. 2022;109:379-380.
    PubMed     Abstract available


  12. LI X, Yung G, Zhou H, Sun R, et al
    A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.
    Am J Hum Genet. 2022;109:446-456.
    PubMed     Abstract available


  13. BOAHEN CK, Temba GS, Kullaya VI, Matzaraki V, et al
    A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population.
    Am J Hum Genet. 2022;109:471-485.
    PubMed     Abstract available


  14. CORNELIS SS, Runhart EH, Bauwens M, Corradi Z, et al
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
    Am J Hum Genet. 2022;109:498-507.
    PubMed     Abstract available


    February 2022
  15. SHARO AG, Hu Z, Sunyaev SR, Brenner SE, et al
    StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
    Am J Hum Genet. 2022;109:195-209.
    PubMed     Abstract available


    January 2022
  16. BROTMAN SM, Raulerson CK, Vadlamudi S, Currin KW, et al
    Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.
    Am J Hum Genet. 2022;109:66-80.
    PubMed     Abstract available


  17. PRIVE F, Aschard H, Carmi S, Folkersen L, et al
    Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort.
    Am J Hum Genet. 2022;109:12-23.
    PubMed     Abstract available


  18. ZHANG Z, An HH, Vege S, Hu T, et al
    Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.
    Am J Hum Genet. 2022;109:180-191.
    PubMed     Abstract available


  19. BALICK DJ, Jordan DM, Sunyaev S, Do R, et al
    Overcoming constraints on the detection of recessive selection in human genes from population frequency data.
    Am J Hum Genet. 2022;109:33-49.
    PubMed     Abstract available


  20. HINDY G, Dornbos P, Chaffin MD, Liu DJ, et al
    Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
    Am J Hum Genet. 2022;109:81-96.
    PubMed     Abstract available


  21. NATRI HM, Hudjashov G, Jacobs G, Kusuma P, et al
    Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries.
    Am J Hum Genet. 2022;109:50-65.
    PubMed     Abstract available


    December 2021
  22. KORF BR
    Describing human populations: An evolving picture in human genetics research.
    Am J Hum Genet. 2021;108:2207.
    PubMed    


  23. SHAW DM, Polikowsky HP, Pruett DG, Chen HH, et al
    Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering.
    Am J Hum Genet. 2021;108:2271-2283.
    PubMed     Abstract available


  24. BYEON YJJ, Islamaj R, Yeganova L, Wilbur WJ, et al
    Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades.
    Am J Hum Genet. 2021;108:2215-2223.
    PubMed     Abstract available


  25. BLOUT ZAWATSKY CL, Shah N, Machini K, Perez E, et al
    Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
    Am J Hum Genet. 2021;108:2224-2237.
    PubMed     Abstract available


  26. PRINCE C, Mitchell RE, Richardson TG
    Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes.
    Am J Hum Genet. 2021;108:2259-2270.
    PubMed     Abstract available


    November 2021
  27. SMITH HS, Brothers KB, Knight SJ, Ackerman SL, et al
    Conceptualization of utility in translational clinical genomics research.
    Am J Hum Genet. 2021;108:2027-2036.
    PubMed     Abstract available


    October 2021
  28. GINSBURG G, Penny M, Feero WG, Miller M, et al
    The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.
    Am J Hum Genet. 2021;108:1817-1822.
    PubMed     Abstract available


  29. BRASCHI B, Seal RL, Tweedie S, Jones TEM, et al
    The risks of using unapproved gene symbols.
    Am J Hum Genet. 2021;108:1813-1816.
    PubMed     Abstract available


  30. MITANI T, Isikay S, Gezdirici A, Gulec EY, et al
    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
    Am J Hum Genet. 2021;108:1981-2005.
    PubMed     Abstract available


  31. MUKHERJEE S, Cogan JD, Newman JH, Phillips JA 3rd, et al
    Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
    Am J Hum Genet. 2021;108:1946-1963.
    PubMed     Abstract available


    September 2021
  32. MATHIESON I
    The omnigenic model and polygenic prediction of complex traits.
    Am J Hum Genet. 2021;108:1558-1563.
    PubMed     Abstract available


  33. STARK Z, Foulger RE, Williams E, Thompson BA, et al
    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
    Am J Hum Genet. 2021;108:1551-1557.
    PubMed     Abstract available


    August 2021
  34. YENGO L, Yang J, Keller MC, Goddard ME, et al
    Genomic partitioning of inbreeding depression in humans.
    Am J Hum Genet. 2021;108:1488-1501.
    PubMed     Abstract available


    July 2021
  35. ARRIAGA-MACKENZIE IS, Matesi G, Chen S, Ronco A, et al
    Summix: A method for detecting and adjusting for population structure in genetic summary data.
    Am J Hum Genet. 2021;108:1270-1282.
    PubMed     Abstract available


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


  37. 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


  38. 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


  39. 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
  40. 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


  41. 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


  42. 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

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


  44. 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


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


  46. 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


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


  48. 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


  49. 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


  50. 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


  51. 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
  52. 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


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


    January 2021
  54. 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


  55. 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


  56. 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
  57. 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


  58. 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
  59. 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


  60. 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


  61. 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


  62. 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
  63. 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


  64. 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


  65. 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


  66. 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


  67. 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

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


  69. 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


  70. 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


  71. 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
  72. 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


  73. 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


  74. 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
  75. 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


  76. 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


  77. 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


  78. 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


  79. 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
  80. 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    


  81. 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
  82. 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


  83. 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
  84. 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


  85. 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
  86. 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
  87. 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
  88. 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


  89. 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
  90. 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


  91. 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
  92. 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
  93. MANOLIO TA
    Using the Data We Have: Improving Diversity in Genomic Research.
    Am J Hum Genet. 2019;105:233-236.
    PubMed     Abstract available


  94. 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


  95. 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
  96. 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


  97. 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


  98. 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


  99. 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
  100. 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


  101. 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


  102. 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


  103. 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
  104. BIRNEY E
    The Convergence of Research and Clinical Genomics.
    Am J Hum Genet. 2019;104:781-783.
    PubMed    


  105. 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


  106. 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

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


  108. 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


  109. 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


  110. 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


  111. 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


  112. 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
  113. GINSBURG GS
    A Global Collaborative to Advance Genomic Medicine.
    Am J Hum Genet. 2019;104:407-409.
    PubMed    


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


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


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


  117. 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    


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


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


  120. 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


  121. 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


  122. 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
  123. 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


  124. 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


  125. 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
  126. 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



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


  128. 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


  129. 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


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