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Genetics

Free Subscription Articles published in Am J Hum Genet Retrieve available abstracts of 131 articles: HTML format

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March 2024
1. COX NJ
   2023 ASHG Leadership Award.
   Am J Hum Genet. 2024;111:429-432.
   PubMed     Abstract available
   
   
   
2. BOEHNKE M
   2023 ASHG Leadership Award: Nancy Cox.
   Am J Hum Genet. 2024;111:428.
   PubMed     Abstract available
   
   
   
3. PRZEWORSKI M
   2023 ASHG Scientific Achievement Award.
   Am J Hum Genet. 2024;111:425-427.
   PubMed     Abstract available
   
   
   
4. SHENDURE J
   2023 ASHG Scientific Achievement Award: Molly Przeworski.
   Am J Hum Genet. 2024;111:424.
   PubMed     Abstract available
   
   
   
5. KLEIN O
   2023 ASHG Lifetime Achievement Award: Neil Risch.
   Am J Hum Genet. 2024;111:410-411.
   PubMed     Abstract available
   
   
   
6. 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
   
   
   
7. 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
   
   
   
8. 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
9. 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
10. 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
    
    
    
11. 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
12. 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
    
    
    
13. 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
    
    
    
14. 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
15. 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
    
    
    
16. 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
    
    
    
17. 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
18. 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
    
    
    
19. 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
20. 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
    
    
    
21. 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
22. 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
    
    
    
23. 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
24. 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
    
    
    
25. 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
    
    
    
26. 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
27. 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
28. 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
29. 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
    
    
    
30. 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
    
    
    
31. 
    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
32. 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
    
    
    
33. 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
    
    
    
34. 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
    
    
    
35. 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
    
    
    
36. BROWNING SR, Waples RK, Browning BL
    Fast, accurate local ancestry inference with FLARE.
    Am J Hum Genet. 2023;110:326-335.
    PubMed     Abstract available
    
    
    
37. 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
38. 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
    
    
    
39. 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
40. 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
    
    
    
41. 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
42. 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
43. 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
    
    
    
44. 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
    
    
    
45. 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
    
    
    
46. 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
47. 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
    
    
    
48. 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
    
    
    
49. 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
50. 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
51. 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
    
    
    
52. 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
53. 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
54. 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
    
    
    
55. 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
    
    
    
56. 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
57. BURKE W
    2021 McKusick Leadership Award: Learning from communities.
    Am J Hum Genet. 2022;109:390-392.
    PubMed     Abstract available
    
    
    
58. DERMITZAKIS ET
    2021 Curt Stern Award: Studying the biology of "junk".
    Am J Hum Genet. 2022;109:387-389.
    PubMed     Abstract available
    
    
    
59. CASKEY CT
    2021 Allan Award.
    Am J Hum Genet. 2022;109:384-386.
    PubMed     Abstract available
    
    
    
60. JARVIK GP
    2021 ASHG presidential address-Imagination and daring: Past, present, and future.
    Am J Hum Genet. 2022;109:381-383.
    PubMed     Abstract available
    
    
    
61. 
    2021 ASHG awards and addresses.
    Am J Hum Genet. 2022;109:379-380.
    PubMed     Abstract available
    
    
    
62. 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
    
    
    
63. 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
    
    
    
64. 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
65. 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
66. 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
    
    
    
67. 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
    
    
    
68. 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
    
    
    
69. 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
    
    
    
70. 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
    
    
    
71. 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
72. KORF BR
    Describing human populations: An evolving picture in human genetics research.
    Am J Hum Genet. 2021;108:2207.
    PubMed    
    
    
    
73. 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
    
    
    
74. 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
    
    
    
75. 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
    
    
    
76. 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
77. 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
78. 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
    
    
    
79. 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
    
    
    
80. 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
    
    
    
81. 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
82. MATHIESON I
    The omnigenic model and polygenic prediction of complex traits.
    Am J Hum Genet. 2021;108:1558-1563.
    PubMed     Abstract available
    
    
    
83. 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
84. 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
85. 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
86. BYERS PH
    2020 McKusick Award address.
    Am J Hum Genet. 2021;108:761-763.
    PubMed     Abstract available
    
    
    
87. 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
    
    
    
88. 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
    
    
    
89. 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
90. 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
    
    
    
91. 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
    
    
    
92. 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
93. 
    How science will help us move forward in 2021.
    Am J Hum Genet. 2021;108:371-372.
    PubMed     Abstract available
    
    
    
94. 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
    
    
    
95. MORTON CC
    ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.
    Am J Hum Genet. 2021;108:392-394.
    PubMed     Abstract available
    
    
    
96. 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
    
    
    
97. EICHLER EE
    2020 William Allan Award introduction: Mary-Claire King.
    Am J Hum Genet. 2021;108:383-385.
    PubMed     Abstract available
    
    
    
98. 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
    
    
    
99. 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
    
    
    
100. 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
     
     
     
101. 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
102. 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
     
     
     
103. MILLER D
     The diagnostic odyssey: our family's story.
     Am J Hum Genet. 2021;108:217-218.
     PubMed     Abstract available
     
     
     January 2021
104. 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
     
     
     
105. 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
     
     
     
106. 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
107. 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
     
     
     
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