Beryl B. Cummings
0000-0001-6346-1646
Publication & Citation Trends
Publications
0 total
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Cited by 1
Semantic Scholar
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Cited by 2
Semantic Scholar
An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primates
Cited by 10
Semantic Scholar
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy OA
Cited by 16
Semantic Scholar
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes OA
Cited by 23
Semantic Scholar
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy OA
Cited by 2
Semantic Scholar
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
Cited by 6
Semantic Scholar
the genetic etiology
Cited by 0
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(35)
RNA Research and Splicing
(18)
RNA modifications and cancer
(16)
Muscle Physiology and Disorders
(15)
Genomic variations and chromosomal abnormalities
(11)
Affiliations
Broad Institute
University of Maryland, Baltimore
University of Helsinki
Harvard University
University of Padua