Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, and RNA Research and Splicing.
The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series
Adaptor protein 2 sigma subunit ( <i>AP2S1</i> ) variants associated with neurodevelopmental disorders
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the <scp>S135L</scp> (c.<scp>404C</scp> > T) variant of <scp><i>GALT</i></scp>
DLG4-related synaptopathy: a new rare brain disorder
Application of full-genome analysis to diagnose rare monogenic disorders
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia
Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects
The Role of Mitochondrially Derived ATP in Synaptic Vesicle Recycling
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects