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Articles published in Am J Hum Genet

Retrieve available abstracts of 90 articles:
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    October 2022
  1. 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
  2. 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

  3. 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

  4. 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

  5. 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
  6. 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

  7. 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

  8. 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
  9. 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
  10. 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

  11. 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
  12. 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
  13. 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

  14. 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

  15. 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
  16. BURKE W
    2021 McKusick Leadership Award: Learning from communities.
    Am J Hum Genet. 2022;109:390-392.
    PubMed     Abstract available

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

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

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

  20. 2021 ASHG awards and addresses.
    Am J Hum Genet. 2022;109:379-380.
    PubMed     Abstract available

  21. 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

  22. 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

  23. 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
  24. 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
  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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
  31. KORF BR
    Describing human populations: An evolving picture in human genetics research.
    Am J Hum Genet. 2021;108:2207.

  32. 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

  33. 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

  34. 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

  35. 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
  36. 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
  37. 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

  38. 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

  39. 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

  40. 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
    The omnigenic model and polygenic prediction of complex traits.
    Am J Hum Genet. 2021;108:1558-1563.
    PubMed     Abstract available

  42. 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
  43. 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
  44. 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
  45. BYERS PH
    2020 McKusick Award address.
    Am J Hum Genet. 2021;108:761-763.
    PubMed     Abstract available

  46. 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

  47. 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

  48. 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
  49. 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

  50. 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

  51. 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

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

    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

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

  55. 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

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

    2020 ASHG presidential address: the 'BIG TENT' of genetics/genomics and our world.
    Am J Hum Genet. 2021;108:375-382.
    PubMed     Abstract available

  58. 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

  59. 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

  60. 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
  61. 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

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

    January 2021
  63. 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

  64. 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

  65. 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
  66. 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

  67. 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
  68. 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

  69. 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

  70. 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

  71. 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
  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

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

  78. 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

  79. 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

  80. 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
  81. 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

  82. 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

  83. 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
  84. 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

  85. 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

  86. 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

  87. 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

  88. 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
  89. 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.

  90. 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

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