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2049 Chinese

The 20K Word Road to Mandarin Proficiency

By B. S. Kamps et al.


  Genetics

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Articles published in Am J Hum Genet

Retrieve available abstracts of 134 articles:
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Single Articles


    May 2024
  1. WANG Y, He Y, Shi Y, Qian DC, et al
    Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.
    Am J Hum Genet. 2024;111:809-824.
    PubMed     Abstract available


  2. COHEN ASA, Berrios CD, Zion TN, Barrett CM, et al
    Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
    Am J Hum Genet. 2024;111:825-832.
    PubMed     Abstract available


  3. CAHOON JL, Rui X, Tang E, Simons C, et al
    Imputation accuracy across global human populations.
    Am J Hum Genet. 2024;111:979-989.
    PubMed     Abstract available


    March 2024
  4. COX NJ
    2023 ASHG Leadership Award.
    Am J Hum Genet. 2024;111:429-432.
    PubMed     Abstract available


  5. BOEHNKE M
    2023 ASHG Leadership Award: Nancy Cox.
    Am J Hum Genet. 2024;111:428.
    PubMed     Abstract available


  6. PRZEWORSKI M
    2023 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2024;111:425-427.
    PubMed     Abstract available


  7. SHENDURE J
    2023 ASHG Scientific Achievement Award: Molly Przeworski.
    Am J Hum Genet. 2024;111:424.
    PubMed     Abstract available


  8. KLEIN O
    2023 ASHG Lifetime Achievement Award: Neil Risch.
    Am J Hum Genet. 2024;111:410-411.
    PubMed     Abstract available


  9. LEE B
    2023 ASHG presidential address-Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future.
    Am J Hum Genet. 2024;111:407-409.
    PubMed     Abstract available


  10. ZHANG J, Pandey M, Awe A, Lue N, et al
    The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.
    Am J Hum Genet. 2024;111:473-486.
    PubMed     Abstract available


  11. ALLEN CG, Hunt KJ, McMahon LL, Thornhill C, et al
    Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.
    Am J Hum Genet. 2024;111:433-444.
    PubMed     Abstract available


    February 2024
  12. WANG X, Kostrzewa C, Reiner A, Shen R, et al
    Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways.
    Am J Hum Genet. 2024;111:227-241.
    PubMed     Abstract available


    January 2024
  13. WILEY LK, Shortt JA, Roberts ER, Lowery J, et al
    Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
    Am J Hum Genet. 2024;111:11-23.
    PubMed     Abstract available


  14. FOWLER DM, Rehm HL
    Will variants of uncertain significance still exist in 2030?
    Am J Hum Genet. 2024;111:5-10.
    PubMed     Abstract available


    December 2023
  15. LINK V, Schraiber JG, Fan C, Dinh B, et al
    Tree-based QTL mapping with expected local genetic relatedness matrices.
    Am J Hum Genet. 2023;110:2077-2091.
    PubMed     Abstract available


  16. SUCKIEL SA, Kelly NR, Odgis JA, Gallagher KM, et al
    The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic results disclosure in diverse families.
    Am J Hum Genet. 2023;110:2029-2041.
    PubMed     Abstract available


  17. GEORGE SHL, Medina-Rivera A, Idaghdour Y, Lappalainen T, et al
    Increasing diversity of functional genetics studies to advance biological discovery and human health.
    Am J Hum Genet. 2023;110:1996-2002.
    PubMed     Abstract available


    November 2023
  18. MIGA KH, Eichler EE
    Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes.
    Am J Hum Genet. 2023;110:1832-1840.
    PubMed     Abstract available


  19. GUNTER C, Green ED
    To boldly go: Unpacking the NHGRI's bold predictions for human genomics by 2030.
    Am J Hum Genet. 2023;110:1829-1831.
    PubMed     Abstract available


  20. CHAN TF, Rui X, Conti DV, Fornage M, et al
    Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics.
    Am J Hum Genet. 2023;110:1853-1862.
    PubMed     Abstract available


    October 2023
  21. MEDINA-MUNOZ SG, Ortega-Del Vecchyo D, Cruz-Hervert LP, Ferreyra-Reyes L, et al
    Demographic modeling of admixed Latin American populations from whole genomes.
    Am J Hum Genet. 2023;110:1804-1816.
    PubMed     Abstract available


  22. LI B, Sangkuhl K, Whaley R, Woon M, et al
    Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.
    Am J Hum Genet. 2023;110:1628-1647.
    PubMed     Abstract available


    September 2023
  23. MIAO L, Jiang L, Tang B, Sham PC, et al
    Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability.
    Am J Hum Genet. 2023;110:1534-1548.
    PubMed     Abstract available


  24. BASTARACHE L, Delozier S, Pandit A, He J, et al
    The phenotype-genotype reference map: Improving biobank data science through replication.
    Am J Hum Genet. 2023;110:1522-1533.
    PubMed     Abstract available


    August 2023
  25. TIAN Y, Dong D, Wang Z, Wu L, et al
    Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression.
    Am J Hum Genet. 2023;110:1289-1303.
    PubMed     Abstract available


  26. PETTER E, Ding Y, Hou K, Bhattacharya A, et al
    Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring.
    Am J Hum Genet. 2023;110:1319-1329.
    PubMed     Abstract available


    July 2023
  27. WALKER LC, Hoya M, Wiggins GAR, Lindy A, et al
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
    Am J Hum Genet. 2023;110:1046-1067.
    PubMed     Abstract available


  28. CLAYTON EW, Smith ME, Anderson KC, Chung WK, et al
    Studying the impact of translational genomic research: Lessons from eMERGE.
    Am J Hum Genet. 2023;110:1021-1033.
    PubMed     Abstract available


  29. GREEN RC, Shah N, Genetti CA, Yu T, et al
    Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
    Am J Hum Genet. 2023;110:1034-1045.
    PubMed     Abstract available


    June 2023
  30. MESTER R, Hou K, Ding Y, Meeks G, et al
    Impact of cross-ancestry genetic architecture on GWASs in admixed populations.
    Am J Hum Genet. 2023;110:927-939.
    PubMed     Abstract available


    May 2023
  31. DANIELS RJ, D'Amato ME, Lesaoana M, Kasu M, et al
    Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa.
    Am J Hum Genet. 2023;110:880-894.
    PubMed     Abstract available


    March 2023
  32. STARK Z, Boughtwood T, Haas M, Braithwaite J, et al
    Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
    Am J Hum Genet. 2023;110:419-426.
    PubMed     Abstract available


  33. JACKSON CS, Turner D, June M, Miller MV, et al
    Facing Our History-Building an Equitable Future.
    Am J Hum Genet. 2023;110:377-395.
    PubMed     Abstract available



  34. On the report of the ASHG "Facing Our History-Building an Equitable Future" initiative.
    Am J Hum Genet. 2023;110:375-376.
    PubMed     Abstract available


    February 2023
  35. PFENNIG A, Lachance J
    Challenges of accurately estimating sex-biased admixture from X chromosomal and autosomal ancestry proportions.
    Am J Hum Genet. 2023;110:359-367.
    PubMed     Abstract available


  36. ZAMARIOLLI M, Auwerx C, Sadler MC, van der Graaf A, et al
    The impact of 22q11.2 copy-number variants on human traits in the general population.
    Am J Hum Genet. 2023;110:300-313.
    PubMed     Abstract available


  37. DO WL, Sun D, Meeks K, Dugue PA, et al
    Epigenome-wide meta-analysis of BMI in nine cohorts: Examining the utility of epigenetically predicted BMI.
    Am J Hum Genet. 2023;110:273-283.
    PubMed     Abstract available


  38. ABDELLAOUI A, Yengo L, Verweij KJH, Visscher PM, et al
    15 years of GWAS discovery: Realizing the promise.
    Am J Hum Genet. 2023;110:179-194.
    PubMed     Abstract available


  39. BROWNING SR, Waples RK, Browning BL
    Fast, accurate local ancestry inference with FLARE.
    Am J Hum Genet. 2023;110:326-335.
    PubMed     Abstract available


  40. KO S, Chu BB, Peterson D, Okenwa C, et al
    Unsupervised discovery of ancestry-informative markers and genetic admixture proportions in biobank-scale datasets.
    Am J Hum Genet. 2023;110:314-325.
    PubMed     Abstract available


    January 2023
  41. LI A, Liu S, Bakshi A, Jiang L, et al
    mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data.
    Am J Hum Genet. 2023;110:30-43.
    PubMed     Abstract available


  42. WILCZEWSKI CM, Obasohan J, Paschall JE, Zhang S, et al
    Genotype first: Clinical genomics research through a reverse phenotyping approach.
    Am J Hum Genet. 2023;110:3-12.
    PubMed     Abstract available


    December 2022
  43. NOVEMBRE J, Stein C, Asgari S, Gonzaga-Jauregui C, et al
    Addressing the challenges of polygenic scores in human genetic research.
    Am J Hum Genet. 2022;109:2095-2100.
    PubMed     Abstract available


  44. LITTLE ID, Koehly LM, Gunter C
    Understanding changes in genetic literacy over time and in genetic research participants.
    Am J Hum Genet. 2022;109:2141-2151.
    PubMed     Abstract available


    October 2022
  45. TAI DJC, Razaz P, Erdin S, Gao D, et al
    Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
    Am J Hum Genet. 2022;109:1789-1813.
    PubMed     Abstract available


    September 2022
  46. ATKINSON EG, Dalvie S, Pichkar Y, Kalungi A, et al
    Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.
    Am J Hum Genet. 2022;109:1667-1679.
    PubMed     Abstract available


  47. NELSON SC, Gogarten SM, Fullerton SM, Isasi CR, et al
    Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience.
    Am J Hum Genet. 2022;109:1582-1590.
    PubMed     Abstract available


  48. LEMKE AA, Esplin ED, Goldenberg AJ, Gonzaga-Jauregui C, et al
    Addressing underrepresentation in genomics research through community engagement.
    Am J Hum Genet. 2022;109:1563-1571.
    PubMed     Abstract available


  49. MARAFI D, Kozar N, Duan R, Bradley S, et al
    A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
    Am J Hum Genet. 2022;109:1713-1723.
    PubMed     Abstract available


    August 2022
  50. BREWER T, Yehia L, Bazeley P, Eng C, et al
    Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.
    Am J Hum Genet. 2022;109:1520-1533.
    PubMed     Abstract available


  51. RAMDAS S, Judd J, Graham SE, Kanoni S, et al
    A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
    Am J Hum Genet. 2022;109:1366-1387.
    PubMed     Abstract available


  52. AVADHANAM S, Williams AL
    Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls.
    Am J Hum Genet. 2022;109:1405-1420.
    PubMed     Abstract available


    July 2022
  53. BOMBARD Y, Ginsburg GS, Sturm AC, Zhou AY, et al
    Digital health-enabled genomics: Opportunities and challenges.
    Am J Hum Genet. 2022;109:1190-1198.
    PubMed     Abstract available


    June 2022
  54. 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


  55. 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
  56. 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
  57. 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


  58. 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


  59. 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
  60. BURKE W
    2021 McKusick Leadership Award: Learning from communities.
    Am J Hum Genet. 2022;109:390-392.
    PubMed     Abstract available


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


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


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



  64. 2021 ASHG awards and addresses.
    Am J Hum Genet. 2022;109:379-380.
    PubMed     Abstract available


  65. 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


  66. 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


  67. 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
  68. 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
  69. 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


  70. 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


  71. 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


  72. 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


  73. 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


  74. 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
  75. KORF BR
    Describing human populations: An evolving picture in human genetics research.
    Am J Hum Genet. 2021;108:2207.
    PubMed    


  76. 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


  77. 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


  78. 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


  79. 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
  80. 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
  81. 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


  82. 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


  83. 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


  84. 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
  85. MATHIESON I
    The omnigenic model and polygenic prediction of complex traits.
    Am J Hum Genet. 2021;108:1558-1563.
    PubMed     Abstract available


  86. 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
  87. 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
  88. 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
  89. BYERS PH
    2020 McKusick Award address.
    Am J Hum Genet. 2021;108:761-763.
    PubMed     Abstract available


  90. 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


  91. 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


  92. 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
  93. 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


  94. 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


  95. 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

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


  97. 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


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


  99. 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


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


  101. 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


  102. 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


  103. 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


  104. 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
  105. 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


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


    January 2021
  107. 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


  108. 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


  109. 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
  110. 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


  111. 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
  112. 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


  113. 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


  114. 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.
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    Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
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    October 2020
  116. PATRINOS GP, Pasparakis E, Koiliari E, Pereira AC, et al
    Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.
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  117. RAGSDALE AP, Nelson D, Gravel S, Kelleher J, et al
    Lessons Learned from Bugs in Models of Human History.
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    Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
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    eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.
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    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
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    September 2020

  121. Advancing Diverse Participation in Research with Special Consideration for Vulnerable Populations.
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  122. MULINDWA J, Noyes H, Ilboudo H, Pagani L, et al
    High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
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  123. DEMIRDJIAN L, Xu Y, Bahrami-Samani E, Pan Y, et al
    Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data.
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    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
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    August 2020
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    Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
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  126. 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.
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    Regional Variation of Splicing QTLs in Human Brain.
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    July 2020
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    Management of Secondary Genomic Findings.
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  129. ZHOU Y, Browning BL, Browning SR
    Population-Specific Recombination Maps from Segments of Identity by Descent.
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  130. 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.
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    Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
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    A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years.
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    June 2020
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    The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family.
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    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.
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