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Circulation. Cardiovascular Genetics|June 22, 2014
Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing StudyHonghuang Lin, Min Wang, Jennifer A Brody, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2019
Insights into genetics, human biology and disease gleaned from family based genomic studiesJennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
American Journal of Human Genetics|May 5, 2009
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic diseaseDong-Chuan Guo, Christina L Papke, Van Tran-Fadulu, et al.
Hepatology (Baltimore, Md.)|January 22, 2019
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeJohn-Paul Berauer, Anya I Mezina, David T Okou, et al.
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.
American Journal of Human Genetics|November 3, 2015
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, 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.
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