Courtney E. French
0000-0001-7620-1544
Publication & Citation Trends
Publications
54 total
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy OA
Cited by 32
Semantic Scholar
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders OA
Cited by 19
Semantic Scholar
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy OA
Cited by 30
Semantic Scholar
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood OA
Cited by 16
Semantic Scholar
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders
Cited by 6
Semantic Scholar
Risk Factors Associated with a Second Primary Lung Cancer in Patients with an Initial Primary Lung Cancer OA
Cited by 13
Semantic Scholar
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease OA
Cited by 31
Semantic Scholar
Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy OA
Cited by 2
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(18)
RNA and protein synthesis mechanisms
(14)
RNA modifications and cancer
(12)
RNA Research and Splicing
(9)
Neurogenetic and Muscular Disorders Research
(8)
Affiliations
Broad Institute
Boston University
University of London
Boston Children's Hospital
NHS Blood and Transplant