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Articles published in
Am J Hum Genet
    September 2025
  1. BROWNING SR, Browning BL
    Estimating gene conversion rates from population data using multi-individual identity by descent.
    Am J Hum Genet. 2025;112:2167-2177.
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  2. SCHRAIBER JG, Spence JP, Edge MD
    Estimation of demography and mutation rates from one million haploid genomes.
    Am J Hum Genet. 2025;112:2152-2166.
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  3. BAKER J, Stricker E, Coleman J, Ketkar S, et al
    Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench.
    Am J Hum Genet. 2025;112:2001-2009.
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    August 2025
  4. SEAGLE HM, Akerele AT, DeCorte JA, Hellwege JN, et al
    Genomics-informed drug-repurposing strategy identifies two therapeutic targets for preventing liver disease associated with metabolic dysfunction.
    Am J Hum Genet. 2025;112:1778-1791.
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  5. TANG J, Chiang CWK
    A genealogy-based approach for revealing ancestry-specific structures in admixed populations.
    Am J Hum Genet. 2025;112:1906-1922.
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  6. BHAT V, Yu T, Brown L, Pejaver V, et al
    Extracting and calibrating evidence of variant pathogenicity from population biobank data.
    Am J Hum Genet. 2025;112:1805-1817.
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  7. ZHOU G, Yolou I, Xie Y, Zhao H, et al
    Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations.
    Am J Hum Genet. 2025;112:1923-1935.
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  8. LIU Y, Liu M, Yang Y, Cao L, et al
    Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors.
    Am J Hum Genet. 2025;112:1864-1876.
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  9. SMITH JL, Wong Q, Hornsby W, Conomos MP, et al
    Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking.
    Am J Hum Genet. 2025;112:1754-1768.
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    July 2025
  10. RAI A, Klonowski J, Yuan B, Coveler KJ, et al
    Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
    Am J Hum Genet. 2025;112:1664-1680.
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  11. KHAN AT, Adebamowo C, Fullerton SM, Hirbo J, et al
    A data model for population descriptors in genomic research.
    Am J Hum Genet. 2025;112:1504-1514.
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  12. PETERS R, Best S, Lynch F, Vears DF, et al
    Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.
    Am J Hum Genet. 2025;112:1515-1527.
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  13. PALAFOX MF, Boatner L, Wilde BR, Christofk H, et al
    Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.
    Am J Hum Genet. 2025;112:1649-1663.
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    June 2025
  14. GOUVEIA MH, Meeks KAC, Borda V, Leal TP, et al
    Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research.
    Am J Hum Genet. 2025;112:1286-1301.
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  15. GOLDIN MR, Ruderfer DM, Bick A, Roden DM, et al
    Benefits and barriers to broad implementation of genomic sequencing in the NICU.
    Am J Hum Genet. 2025;112:1270-1285.
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    May 2025
  16. ROBERTS KJ, Ogbagiorgis W, Sy A, Williams-Blangero S, et al
    Increasing the genomic workforce through research capacity building: Designing evaluation plans for maximum impact.
    Am J Hum Genet. 2025;112:967-974.
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  17. LANTING P, Warmerdam R, Slager J, Brugge H, et al
    Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays.
    Am J Hum Genet. 2025;112:1015-1028.
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  18. YANG Z, Wang C, Posadas-Garcia YS, Anorve-Garibay V, et al
    Fine-mapping in admixed populations using CARMA-X, with applications to Latin American studies.
    Am J Hum Genet. 2025;112:1215-1232.
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    April 2025
  19. SUN Q, Horimoto ARVR, Chen B, Ockerman F, et al
    Opportunities and challenges of local ancestry in genetic association analyses.
    Am J Hum Genet. 2025;112:727-740.
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  20. HOWLEY C, Haas MA, Al Muftah WA, Annan RB, et al
    The expanding global genomics landscape: Converging priorities from national genomics programs.
    Am J Hum Genet. 2025;112:751-763.
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    March 2025
  21. MORTON CC
    2024 ASHG Leadership Award.
    Am J Hum Genet. 2025;112:478-480.
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  22. AHITUV N
    2024 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2025;112:473-477.
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  23. PERICAK-VANCE MA
    2024 ASHG Lifetime Achievement Award.
    Am J Hum Genet. 2025;112:470-472.
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  24. LUPSKI JR
    2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility.
    Am J Hum Genet. 2025;112:467-469.
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  25. GELB BD
    2024 ASHG presidential address: Incomplete penetrance and variable expressivity: Old concepts, new urgency.
    Am J Hum Genet. 2025;112:461-466.
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  26. HATCHELL KE, Poll SR, Russell EM, Williams TJ, et al
    Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.
    Am J Hum Genet. 2025;112:481-491.
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    February 2025
  27. FORTES-LIMA CA, Diallo MY, Janousek V, Cerny V, et al
    Population history and admixture of the Fulani people from the Sahel.
    Am J Hum Genet. 2025;112:261-275.
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  28. SCALICI A, Miller-Fleming TW, Shuey MM, Baker JT, et al
    Gene and phenome-based analysis of the shared genetic architecture of eye diseases.
    Am J Hum Genet. 2025;112:318-331.
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  29. STONEMAN HR, Price AM, Trout NS, Lamont R, et al
    Characterizing substructure via mixture modeling in large-scale genetic summary statistics.
    Am J Hum Genet. 2025;112:235-253.
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  30. JAKUBEK YA, Ma X, Stilp AM, Yu F, et al
    Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
    Am J Hum Genet. 2025;112:276-290.
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  31. FANG L, Xue H, Lin Z, Pan W, et al
    Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease.
    Am J Hum Genet. 2025;112:291-300.
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  32. HONORATO-MAUER J, Shah NN, Maihofer AX, Zai CC, et al
    Characterizing features affecting local ancestry inference performance in admixed populations.
    Am J Hum Genet. 2025;112:224-234.
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    January 2025
  33. SCHMITZ MJ, Bashar A, Soman V, Nkrumah EAF, et al
    Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.
    Am J Hum Genet. 2025;112:181-195.
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  34. HOVHANNISYAN A, Delser PM, Hakobyan A, Jones ER, et al
    Demographic history and genetic variation of the Armenian population.
    Am J Hum Genet. 2025;112:11-27.
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    December 2024
  35. RAMOS MA, Bonini KE, Scarimbolo L, Kelly NR, et al
    Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
    Am J Hum Genet. 2024;111:2607-2617.
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  36. SAITOU M, Dahl A, Wang Q, Liu X, et al
    Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines.
    Am J Hum Genet. 2024;111:2814-2825.
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  37. YAO S, Li K, Li T, Yu X, et al
    GPS-Net: Discovering prognostic pathway modules based on network regularized kernel learning.
    Am J Hum Genet. 2024;111:2826-2838.
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    November 2024
  38. IBEH N, Kusuma P, Crenna Darusallam C, Malik SG, et al
    Profiling genetically driven alternative splicing across the Indonesian archipelago.
    Am J Hum Genet. 2024;111:2458-2477.
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  39. TEMPLE SD, Waples RK, Browning SR
    Modeling recent positive selection using identity-by-descent segments.
    Am J Hum Genet. 2024;111:2510-2529.
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  40. YIN X, Richardson M, Laner A, Shi X, et al
    Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
    Am J Hum Genet. 2024;111:2427-2443.
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    October 2024
  41. GAYE A, Sene ARG, Gadji M, Deme A, et al
    Toward building a comprehensive human pan-genome: The SEN-GENOME project.
    Am J Hum Genet. 2024;111:2074-2078.
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  42. MAJEED S, Johnston C, Saeedi S, Mighton C, et al
    International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.
    Am J Hum Genet. 2024;111:2079-2093.
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  43. SMITH HS, Zettler B, Genetti CA, Hickingbotham MR, et al
    The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
    Am J Hum Genet. 2024;111:2094-2106.
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  44. SHYR D, Dey R, Li X, Zhou H, et al
    Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.
    Am J Hum Genet. 2024;111:2129-2138.
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    September 2024
  45. KOZLOWSKI E, Ginsburg GS, Korf BR
    A new annual feature of AJHG: All of Us Research Program year in review.
    Am J Hum Genet. 2024;111:1797.
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  46. PARSONS MT, de la Hoya M, Richardson ME, Tudini E, et al
    Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
    Am J Hum Genet. 2024;111:2044-2058.
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  47. ABOOD A, Mesner LD, Jeffery ED, Murali M, et al
    Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease.
    Am J Hum Genet. 2024;111:1914-1931.
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  48. HU T, Parrish RL, Dai Q, Buchman AS, et al
    Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia.
    Am J Hum Genet. 2024;111:1848-1863.
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    August 2024
  49. NISSELLE A, Terrill B, Janinski M, Metcalfe S, et al
    Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations.
    Am J Hum Genet. 2024;111:1508-1523.
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  50. NISSELLE A, Terrill B, Janinski M, Martyn M, et al
    Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework.
    Am J Hum Genet. 2024;111:1497-1507.
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    July 2024
  51. MIGA KH
    From complete genomes to pangenomes.
    Am J Hum Genet. 2024;111:1265-1268.
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  52. MARTINI R, Davis MB
    The DARC side of genetics in cancer: Breast cancer disparities.
    Am J Hum Genet. 2024;111:1261-1264.
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  53. MORTON CC
    Exploring the noncoding genome with chromosomal structural rearrangements.
    Am J Hum Genet. 2024;111:1258-1260.
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  54. RUTHERFORD A
    Eugenics and the misuse of Mendel.
    Am J Hum Genet. 2024;111:1254-1257.
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  55. SAWCHUK EA, Sirak KA, Manthi FK, Ndiema EK, et al
    Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa.
    Am J Hum Genet. 2024;111:1243-1251.
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  56. UNGAR RA, Goddard PC, Jensen TD, Degalez F, et al
    Impact of genome build on RNA-seq interpretation and diagnostics.
    Am J Hum Genet. 2024;111:1282-1300.
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    June 2024
  57. XU ZM, Gnouamozi GE, Rueger S, Shea PR, et al
    Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation.
    Am J Hum Genet. 2024;111:1018-1034.
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  58. DARENG EO, Coetzee SG, Tyrer JP, Peng PC, et al
    Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
    Am J Hum Genet. 2024;111:1061-1083.
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    May 2024
  59. 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.
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  60. 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.
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  61. CAHOON JL, Rui X, Tang E, Simons C, et al
    Imputation accuracy across global human populations.
    Am J Hum Genet. 2024;111:979-989.
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    March 2024
  62. COX NJ
    2023 ASHG Leadership Award.
    Am J Hum Genet. 2024;111:429-432.
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  63. BOEHNKE M
    2023 ASHG Leadership Award: Nancy Cox.
    Am J Hum Genet. 2024;111:428.
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  64. PRZEWORSKI M
    2023 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2024;111:425-427.
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  65. SHENDURE J
    2023 ASHG Scientific Achievement Award: Molly Przeworski.
    Am J Hum Genet. 2024;111:424.
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  66. KLEIN O
    2023 ASHG Lifetime Achievement Award: Neil Risch.
    Am J Hum Genet. 2024;111:410-411.
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  67. 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.
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  68. 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.
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  69. 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.
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    February 2024
  70. 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.
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    January 2024
  71. 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.
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  72. FOWLER DM, Rehm HL
    Will variants of uncertain significance still exist in 2030?
    Am J Hum Genet. 2024;111:5-10.
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    December 2023
  73. 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.
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  74. 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.
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  75. 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.
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    November 2023
  76. 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.
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  77. 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.
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  78. 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.
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    October 2023
  79. 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.
    >> Share

  80. 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.
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    September 2023
  81. 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.
    >> Share

  82. 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.
    >> Share

    August 2023
  83. 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.
    >> Share

  84. 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.
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    July 2023
  85. 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.
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  86. 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.
    >> Share

  87. 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.
    >> Share

    June 2023
  88. 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.
    >> Share

    May 2023
  89. 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.
    >> Share

    March 2023
  90. 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.
    >> Share

  91. 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.
    >> Share


  92. On the report of the ASHG "Facing Our History-Building an Equitable Future" initiative.
    Am J Hum Genet. 2023;110:375-376.
    >> Share


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