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Articles published in Am J Hum Genet

Retrieve available abstracts of 49 articles:
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Single Articles


    June 2018
  1. 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     Text format     Abstract available


    May 2018
  2. 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     Text format     Abstract available


  3. 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     Text format     Abstract available


  4. 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     Text format     Abstract available


  5. 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     Text format     Abstract available


    April 2018
  6. 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     Text format     Abstract available


  7. 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     Text format     Abstract available


    March 2018
  8. KATSANIS N
    2017 Curt Stern Award: The Complexity of Simple Genetics.
    Am J Hum Genet. 2018;102:355-358.
    PubMed     Text format    


  9. BRUNNER HG
    2017 Curt Stern Award Introduction: Nico Katsanis.
    Am J Hum Genet. 2018;102:354.
    PubMed     Text format    


  10. STEFANSSON K
    2017 William Allan Award.
    Am J Hum Genet. 2018;102:351-353.
    PubMed     Text format    


  11. DALY MJ
    2017 William Allan Award Introduction: Kari Stefansson.
    Am J Hum Genet. 2018;102:350.
    PubMed     Text format    


  12. 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.
    PubMed     Text format    



  13. 2017 ASHG Awards and Addresses.
    Am J Hum Genet. 2018;102:340-341.
    PubMed     Text format     Abstract available


    February 2018
  14. 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     Text format     Abstract available


    January 2018
  15. 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     Text format     Abstract available


  16. 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     Text format     Abstract available


  17. 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     Text format     Abstract available


    December 2017
  18. 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     Text format     Abstract available


    November 2017
  19. 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     Text format     Abstract available


  20. 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     Text format     Abstract available


  21. 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     Text format     Abstract available


    October 2017
  22. 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     Text format     Abstract available


    September 2017
  23. 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     Text format     Abstract available


    August 2017
  24. 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     Text format     Abstract available


  25. 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     Text format     Abstract available


    July 2017
  26. 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     Text format     Abstract available


    June 2017
  27. 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     Text format     Abstract available


  28. 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     Text format     Abstract available


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


  30. 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     Text format     Abstract available


  31. 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     Text format     Abstract available


  32. 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     Text format     Abstract available


    April 2017
  33. 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     Text format     Abstract available


  34. 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     Text format     Abstract available


  35. 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     Text format     Abstract available


    March 2017
  36. 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     Text format     Abstract available


  37. GARTLER SM
    2016 Victor A. McKusick Leadership Award.
    Am J Hum Genet. 2017;100:403-405.
    PubMed     Text format    


  38. JARVIK GP
    2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler.
    Am J Hum Genet. 2017;100:401-402.
    PubMed     Text format    


  39. 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.
    PubMed     Text format    


  40. BEAUDET AL
    2016 Curt Stern Award Introduction: Brendan Lee.
    Am J Hum Genet. 2017;100:395-396.
    PubMed     Text format    


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


  42. NELSON DL
    2016 William Allan Award Introduction: James Gusella.
    Am J Hum Genet. 2017;100:385-386.
    PubMed     Text format    


  43. 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.
    PubMed     Text format    


    February 2017
  44. 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     Text format     Abstract available


  45. 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     Text format     Abstract available


  46. 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     Text format     Abstract available


  47. 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     Text format     Abstract available


    January 2017
  48. 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     Text format     Abstract available


    September 2016
  49. 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     Text format     Abstract available


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