Area of research
Molecular Biology · Genetics
Research interest
Research interests include Biology, Disorders of sex development, Genetics, Exome sequencing, Medicine, and Sanger sequencing.
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Intellectual disability syndrome associated with a homozygous founder variant in <i>SGSM3</i> in Ashkenazi Jews
Missense variant contribution to USP9X-female syndrome
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
SLC20A1 Is Involved in Urinary Tract and Urorectal Development
Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics
Disorders of sex development (DSD): Clinical service delivery in the United States
Genetics of Disorders of Sex Development
<i>MAP3K1</i>‐related gonadal dysgenesis: Six new cases and review of the literature
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency
<i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development