Publication & Citation Trends
Publications
51 total
P565: GeneMatcher-facilitated collaborative research ends diagnostic odysseys: From candidate gene cohorts to diagnostic reports*
Cited by 0
Semantic Scholar
P261: SeqFirst developmental differences: Early whole genome sequencing offered using broad inclusion criteria improves access to early precise genetic diagnosis
Cited by 0
Semantic Scholar
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype OA
Cited by 1
Semantic Scholar
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies
Cited by 0
Semantic Scholar
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Cited by 10
Semantic Scholar
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Cited by 4
Semantic Scholar
Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders OA
Cited by 1
Semantic Scholar
Non‐immune hydrops fetalis is associated with bi‐allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene OA
Cited by 3
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(29)
Genomics and Rare Diseases
(15)
RNA modifications and cancer
(10)
Congenital heart defects research
(8)
Ubiquitin and proteasome pathways
(6)
Affiliations
GenVec
Virginia Commonwealth University
National Center on Birth Defects and Developmental Disabilities
OPKO Health (United States)
ID Genomics (United States)