Leah J. Rowe
GenVec(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Glycosylation and Glycoproteins Research, RNA modifications and cancer
Most-Cited Works
- → Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature(2021)67 cited
- → De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder(2019)47 cited
- → Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions(2020)36 cited
- → A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype(2025)3 cited