Publication & Citation Trends
Publications
0 total
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
Cited by 1
Semantic Scholar
P429: High-throughput sequencing technologies uncover a loss-of-function variant of the GATAB2B gene in a GAND patient OA
Cited by 0
Semantic Scholar
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
Cited by 0
Semantic Scholar
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review OA
Cited by 1
Semantic Scholar
Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome
Cited by 0
Semantic Scholar
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity OA
Cited by 9
Semantic Scholar
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
Cited by 7
Semantic Scholar
Germline susceptibility from broad genomic profiling of pediatric brain cancers OA
Cited by 7
Semantic Scholar
Research Topics
Cancer Genomics and Diagnostics
(163)
Genomics and Phylogenetic Studies
(78)
Acute Myeloid Leukemia Research
(74)
Chromosomal and Genetic Variations
(72)
Genomics and Rare Diseases
(50)
Affiliations
University of North Carolina at Chapel Hill
James S. McDonnell Foundation
Poznan University of Medical Sciences
California Institute of Technology
Texas Biomedical Research Institute