Publication & Citation Trends
Publications
1,221 total
Context-dependent functions of mitochondria protein quality control in lung OA
Cited by 1
Semantic Scholar
Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56δ holoenzyme OA
Cited by 1
Semantic Scholar
Phenotypic effects of genetic variants associated with autism OA
Cited by 62
Semantic Scholar
Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites OA
Cited by 24
Semantic Scholar
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease OA
Cited by 20
Semantic Scholar
Design and Rationale the SCAN‐MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study OA
Cited by 15
Semantic Scholar
Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study OA
Cited by 25
Semantic Scholar
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care OA
Cited by 5
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(284)
BRCA gene mutations in cancer
(203)
Genetics and Neurodevelopmental Disorders
(156)
Congenital heart defects research
(146)
Genomic variations and chromosomal abnormalities
(134)
Affiliations
Broad Institute
University of North Carolina at Chapel Hill
University of Southern California
Children's Hospital of Wisconsin
Lawrence Livermore National Laboratory