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Articles published in Am J Hum Genet

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Single Articles

    May 2020
  1. VITSIOS D, Petrovski S
    Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.
    Am J Hum Genet. 2020;106:659-678.
    PubMed     Abstract available

  2. DEBOEVER C, Tanigawa Y, Aguirre M, McInnes G, et al
    Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases.
    Am J Hum Genet. 2020;106:611-622.
    PubMed     Abstract available

    April 2020
  3. XU D, Wang C, Kiryluk K, Buxbaum JD, et al
    Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data.
    Am J Hum Genet. 2020;106:513-524.
    PubMed     Abstract available

  4. ZHOU Y, Browning SR, Browning BL
    A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data.
    Am J Hum Genet. 2020;106:426-437.
    PubMed     Abstract available

    March 2020
  5. DAI CL, Vazifeh MM, Yeang CH, Tachet R, et al
    Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis.
    Am J Hum Genet. 2020;106:371-388.
    PubMed     Abstract available

    February 2020
  6. BOYCOTT KM, Campeau PM, Howley HE, Pavlidis P, et al
    The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
    Am J Hum Genet. 2020;106:143-152.
    PubMed     Abstract available

    January 2020
  7. DAHL A, Nguyen K, Cai N, Gandal MJ, et al
    A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits.
    Am J Hum Genet. 2020;106:71-91.
    PubMed     Abstract available

  8. ZHAO Z, Bi W, Zhou W, VandeHaar P, et al
    UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test.
    Am J Hum Genet. 2020;106:3-12.
    PubMed     Abstract available

    December 2019
  9. WALL JD, Ratan A, Stawiski E
    Identification of African-Specific Admixture between Modern and Archaic Humans.
    Am J Hum Genet. 2019;105:1254-1261.
    PubMed     Abstract available

  10. BI W, Zhao Z, Dey R, Fritsche LG, et al
    A Fast and Accurate Method for Genome-wide Scale Phenome-wide G x E Analysis and Its Application to UK Biobank.
    Am J Hum Genet. 2019;105:1182-1192.
    PubMed     Abstract available

    November 2019
  11. HANSEN AW, Murugan M, Li H, Khayat MM, et al
    A Genocentric Approach to Discovery of Mendelian Disorders.
    Am J Hum Genet. 2019;105:974-986.
    PubMed     Abstract available

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

  13. AGUIRRE M, Rivas MA, Priest J
    Phenome-wide Burden of Copy-Number Variation in the UK Biobank.
    Am J Hum Genet. 2019;105:373-383.
    PubMed     Abstract available

  14. JOSEPH TA, Pe'er I
    Inference of Population Structure from Time-Series Genotype Data.
    Am J Hum Genet. 2019;105:317-333.
    PubMed     Abstract available

    July 2019
  15. STARK Z, Boughtwood T, Phillips P, Christodoulou J, et al
    Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
    Am J Hum Genet. 2019;105:7-14.
    PubMed     Abstract available

  16. RAFEHI H, Szmulewicz DJ, Bennett MF, Sobreira NLM, et al
    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
    Am J Hum Genet. 2019;105:151-165.
    PubMed     Abstract available

  17. PEHLIVAN D, Bayram Y, Gunes N, Coban Akdemir Z, et al
    The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
    Am J Hum Genet. 2019;105:132-150.
    PubMed     Abstract available

  18. DIMITROMANOLAKIS A, Paterson AD, Sun L
    Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE.
    Am J Hum Genet. 2019;105:78-88.
    PubMed     Abstract available

    June 2019
  19. KERMINEN S, Martin AR, Koskela J, Ruotsalainen SE, et al
    Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland.
    Am J Hum Genet. 2019;104:1169-1181.
    PubMed     Abstract available

  20. SILVERT M, Quintana-Murci L, Rotival M
    Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation.
    Am J Hum Genet. 2019;104:1241-1250.
    PubMed     Abstract available

  21. HOROWITZ CR, Orlando LA, Slavotinek AM, Peterson J, et al
    The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.
    Am J Hum Genet. 2019;104:1088-1096.
    PubMed     Abstract available

  22. ZHONG Y, Perera MA, Gamazon ER
    On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations.
    Am J Hum Genet. 2019;104:1097-1115.
    PubMed     Abstract available

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

  24. HABER M, Doumet-Serhal C, Scheib CL, Xue Y, et al
    A Transient Pulse of Genetic Admixture from the Crusaders in the Near East Identified from Ancient Genome Sequences.
    Am J Hum Genet. 2019;104:977-984.
    PubMed     Abstract available

  25. AMARIUTA T, Luo Y, Gazal S, Davenport EE, et al
    IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors.
    Am J Hum Genet. 2019;104:879-895.
    PubMed     Abstract available

    April 2019

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

  27. BOMBARD Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, et al
    The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.
    Am J Hum Genet. 2019;104:578-595.
    PubMed     Abstract available

    The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.
    Am J Hum Genet. 2019;104:565-577.
    PubMed     Abstract available

  29. FARAZI FARD MA, Rebelo AP, Buglo E, Nemati H, et al
    Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
    Am J Hum Genet. 2019;104:767-773.
    PubMed     Abstract available

  30. AREF-ESHGHI E, Bend EG, Colaiacovo S, Caudle M, et al
    Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
    Am J Hum Genet. 2019;104:685-700.
    PubMed     Abstract available

  31. HUJOEL MLA, Gazal S, Hormozdiari F, van de Geijn B, et al
    Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species.
    Am J Hum Genet. 2019;104:611-624.
    PubMed     Abstract available

    March 2019
    A Global Collaborative to Advance Genomic Medicine.
    Am J Hum Genet. 2019;104:407-409.

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

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

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

    2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations.
    Am J Hum Genet. 2019;104:375-383.

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

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

  39. UNLU G, Gamazon ER, Qi X, Levic DS, et al
    GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.
    Am J Hum Genet. 2019;104:503-519.
    PubMed     Abstract available

  40. LAVAL G, Peyregne S, Zidane N, Harmant C, et al
    Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure.
    Am J Hum Genet. 2019;104:553-561.
    PubMed     Abstract available

  41. GRINDE KE, Brown LA, Reiner AP, Thornton TA, et al
    Genome-wide Significance Thresholds for Admixture Mapping Studies.
    Am J Hum Genet. 2019;104:454-465.
    PubMed     Abstract available

    February 2019
  42. KLEIN WMP, McBride CM, Allen CG, Arredondo EM, et al
    Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics.
    Am J Hum Genet. 2019;104:193-196.
    PubMed     Abstract available

  43. WRIGHT CF, West B, Tuke M, Jones SE, et al
    Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
    Am J Hum Genet. 2019;104:275-286.
    PubMed     Abstract available

  44. CHEN H, Huffman JE, Brody JA, Wang C, et al
    Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.
    Am J Hum Genet. 2019;104:260-274.
    PubMed     Abstract available

    January 2019
  45. CEYHAN-BIRSOY O, Murry JB, Machini K, Lebo MS, et al
    Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
    Am J Hum Genet. 2019;104:76-93.
    PubMed     Abstract available

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

  47. STARK Z, Dolman L, Manolio TA, Ozenberger B, et al
    Integrating Genomics into Healthcare: A Global Responsibility.
    Am J Hum Genet. 2019;104:13-20.
    PubMed     Abstract available

  48. VERMA A, Bang L, Miller JE, Zhang Y, et al
    Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals.
    Am J Hum Genet. 2019;104:55-64.
    PubMed     Abstract available

    June 2018
  49. FRITSCHE LG, Gruber SB, Wu Z, Schmidt EM, et al
    Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.
    Am J Hum Genet. 2018;102:1048-1061.
    PubMed     Abstract available

    May 2018
  50. SU YR, Di C, Bien S, Huang L, et al
    A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.
    Am J Hum Genet. 2018;102:904-919.
    PubMed     Abstract available

  51. STAPLES J, Maxwell EK, Gosalia N, Gonzaga-Jauregui C, et al
    Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
    Am J Hum Genet. 2018;102:874-889.
    PubMed     Abstract available

  52. RETSHABILE G, Mlotshwa BC, Williams L, Mwesigwa S, et al
    Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.
    Am J Hum Genet. 2018;102:731-743.
    PubMed     Abstract available

  53. MARTIN AR, Karczewski KJ, Kerminen S, Kurki MI, et al
    Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
    Am J Hum Genet. 2018;102:760-775.
    PubMed     Abstract available

    April 2018
  54. PEMBERTON TJ, Szpiech ZA
    Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project.
    Am J Hum Genet. 2018;102:658-675.
    PubMed     Abstract available

  55. LEWIS KL, Umstead KL, Johnston JJ, Miller IM, et al
    Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.
    Am J Hum Genet. 2018;102:540-546.
    PubMed     Abstract available

    March 2018
    2017 Curt Stern Award: The Complexity of Simple Genetics.
    Am J Hum Genet. 2018;102:355-358.

    2017 Curt Stern Award Introduction: Nico Katsanis.
    Am J Hum Genet. 2018;102:354.

    2017 William Allan Award.
    Am J Hum Genet. 2018;102:351-353.

  59. DALY MJ
    2017 William Allan Award Introduction: Kari Stefansson.
    Am J Hum Genet. 2018;102:350.

  60. COX NJ
    2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.
    Am J Hum Genet. 2018;102:342-349.

  61. 2017 ASHG Awards and Addresses.
    Am J Hum Genet. 2018;102:340-341.
    PubMed     Abstract available

    February 2018
  62. BOZAL-BASTERRA L, Martin-Ruiz I, Pirone L, Liang Y, et al
    Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
    Am J Hum Genet. 2018;102:249-265.
    PubMed     Abstract available

    January 2018
  63. BRUCATO N, Fernandes V, Mazieres S, Kusuma P, et al
    The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor.
    Am J Hum Genet. 2018;102:58-68.
    PubMed     Abstract available

  64. EVANS BJ
    HIPAA's Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights.
    Am J Hum Genet. 2018;102:5-10.
    PubMed     Abstract available

  65. PARK E, Pan Z, Zhang Z, Lin L, et al
    The Expanding Landscape of Alternative Splicing Variation in Human Populations.
    Am J Hum Genet. 2018;102:11-26.
    PubMed     Abstract available

    December 2017
  66. LASO-JADART R, Harmant C, Quach H, Zidane N, et al
    The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.
    Am J Hum Genet. 2017;101:977-984.
    PubMed     Abstract available

    November 2017
  67. SHI H, Mancuso N, Spendlove S, Pasaniuc B, et al
    Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits.
    Am J Hum Genet. 2017;101:737-751.
    PubMed     Abstract available

  68. FORTES-LIMA C, Gessain A, Ruiz-Linares A, Bortolini MC, et al
    Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname.
    Am J Hum Genet. 2017;101:725-736.
    PubMed     Abstract available

  69. TANG H, Kirkness EF, Lippert C, Biggs WH, et al
    Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
    Am J Hum Genet. 2017;101:700-715.
    PubMed     Abstract available

    October 2017
  70. QUINODOZ M, Royer-Bertrand B, Cisarova K, Di Gioia SA, et al
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
    Am J Hum Genet. 2017;101:623-629.
    PubMed     Abstract available

    September 2017
  71. LOPEZ S, Thomas MG, van Dorp L, Ansari-Pour N, et al
    The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection.
    Am J Hum Genet. 2017;101:353-368.
    PubMed     Abstract available

    August 2017
  72. LAKE NJ, Webb BD, Stroud DA, Richman TR, et al
    Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
    Am J Hum Genet. 2017;101:239-254.
    PubMed     Abstract available

  73. HABER M, Doumet-Serhal C, Scheib C, Xue Y, et al
    Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.
    Am J Hum Genet. 2017;101:274-282.
    PubMed     Abstract available

    July 2017
  74. DEY R, Schmidt EM, Abecasis GR, Lee S, et al
    A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS.
    Am J Hum Genet. 2017;101:37-49.
    PubMed     Abstract available

    June 2017
  75. GABRIELE M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, et al
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
    Am J Hum Genet. 2017;100:907-925.
    PubMed     Abstract available

  76. STRANDE NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, et al
    Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
    Am J Hum Genet. 2017;100:895-906.
    PubMed     Abstract available

    May 2017
  77. WALL JD
    Inferring Human Demographic Histories of Non-African Populations from Patterns of Allele Sharing.
    Am J Hum Genet. 2017;100:766-772.
    PubMed     Abstract available

  78. LEE M, Roos P, Sharma N, Atalar M, et al
    Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
    Am J Hum Genet. 2017;100:751-765.
    PubMed     Abstract available

  79. NGCUNGCU T, Oti M, Sitek JC, Haukanes BI, et al
    Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
    Am J Hum Genet. 2017;100:737-750.
    PubMed     Abstract available

  80. ZHANG Q, Peng C, Song J, Zhang Y, et al
    Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
    Am J Hum Genet. 2017;100:817-823.
    PubMed     Abstract available

    April 2017
  81. MARTIN AR, Gignoux CR, Walters RK, Wojcik GL, et al
    Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
    Am J Hum Genet. 2017;100:635-649.
    PubMed     Abstract available

  82. YAO C, Joehanes R, Johnson AD, Huan T, et al
    Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits.
    Am J Hum Genet. 2017;100:571-580.
    PubMed     Abstract available

  83. BRYNEDAL B, Choi J, Raj T, Bjornson R, et al
    Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.
    Am J Hum Genet. 2017;100:581-591.
    PubMed     Abstract available

    March 2017
  84. SANDERSON SC, Brothers KB, Mercaldo ND, Clayton EW, et al
    Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US.
    Am J Hum Genet. 2017;100:414-427.
    PubMed     Abstract available

    2016 Victor A. McKusick Leadership Award.
    Am J Hum Genet. 2017;100:403-405.

    2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler.
    Am J Hum Genet. 2017;100:401-402.

  87. LEE B
    2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy.
    Am J Hum Genet. 2017;100:397-400.

    2016 Curt Stern Award Introduction: Brendan Lee.
    Am J Hum Genet. 2017;100:395-396.

    2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.
    Am J Hum Genet. 2017;100:387-394.

    2016 William Allan Award Introduction: James Gusella.
    Am J Hum Genet. 2017;100:385-386.

  91. DIETZ HC
    2016 Presidential Address: Let's Make Human Genetics Great (Again): The Importance of Beauty in Science.
    Am J Hum Genet. 2017;100:379-384.

    February 2017
  92. LI Q, Wang K
    InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
    Am J Hum Genet. 2017;100:267-280.
    PubMed     Abstract available

  93. MORRISON AC, Huang Z, Yu B, Metcalf G, et al
    Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits.
    Am J Hum Genet. 2017;100:205-215.
    PubMed     Abstract available

  94. WAN Z, Vorobeychik Y, Xia W, Clayton EW, et al
    Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach.
    Am J Hum Genet. 2017;100:316-322.
    PubMed     Abstract available

  95. LLOYD-JONES LR, Holloway A, McRae A, Yang J, et al
    The Genetic Architecture of Gene Expression in Peripheral Blood.
    Am J Hum Genet. 2017;100:228-237.
    PubMed     Abstract available

    January 2017
  96. SHEN Q, Cheng F, Song H, Lu W, et al
    Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes.
    Am J Hum Genet. 2017;100:5-20.
    PubMed     Abstract available

    September 2016
  97. LU D, Lou H, Yuan K, Wang X, et al
    Ancestral Origins and Genetic History of Tibetan Highlanders.
    Am J Hum Genet. 2016;99:580-94.
    PubMed     Abstract available

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