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Circulation. Cardiovascular Genetics|June 22, 2014
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) ConsortiumJared W Magnani, Jennifer A Brody, Bram P Prins, et al.
American Journal of Medical Genetics. Part A|March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variantsPagna Sok, Aniko Sabo, Lynn M Almli, et al.
The Journal of Allergy and Clinical Immunology|July 30, 2021
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disordersLisa R Forbes, Olive S Eckstein, Nitya Gulati, et al.
Human Molecular Genetics|May 13, 2022
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factorsNathan Pankratz, Peng Wei, Jennifer A Brody, et al.
Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Circulation. Cardiovascular Genetics|December 15, 2015
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension RiskBing Yu, Sara L Pulit, Shih-Jen Hwang, et al.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
The Journal of Clinical Investigation|November 29, 2016
Biallelic mutations in IRF8 impair human NK cell maturation and functionEmily M Mace, Venetia Bigley, Justin T Gunesch, et al.
European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
JAMA Oncology|January 30, 2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid TumorsD Williams Parsons, Angshumoy Roy, Yaping Yang, et al.
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