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Bioinformatics (Oxford, England)|March 24, 2019
ORE identifies extreme expression effects enriched for rare variantsF Richter, G E Hoffman, K B Manheimer, et al.
Annals of Internal Medicine|May 5, 2010
Safety of herpes zoster vaccine in the shingles prevention study: a randomized trialMichael S Simberkoff, Robert D Arbeit, Gary R Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainmentJung Kim, Gina Ney, Megan N Frone, et al.
Human Genetics|February 9, 2018
Robust identification of mosaic variants in congenital heart diseaseKathryn B Manheimer, Felix Richter, Lisa J Edelmann, et al.
Immunity|August 5, 2020
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical FunctionConor N Gruber, Jorg J A Calis, Sofija Buta, et al.
Genetics in Medicine Open|June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panelsEmma H Wilcox, Ryan F Webb, Kezang C Tshering, et al.
JAMA|July 11, 2023
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic DisorderJill L Maron, Stephen Kingsmore, Bruce D Gelb, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
GenomeDiver: a platform for phenotype-guided medical genomic diagnosisNathaniel M Pearson, Christian Stolte, Kevin Shi, et al.
Plos One|January 20, 2018
The Congenital Heart Disease Genetic Network Study: Cohort descriptionThanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Genome-wide association studies of Down syndrome associated congenital heart defectsElizabeth R Feldman, Yunqi Li, David J Cutler, et al.
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