Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Metabolism, Diabetes, and Cancer, and Metabolism and Genetic Disorders.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Targeted long-read sequencing identifies missing disease-causing variation
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
IRF2BPL Is Associated with Neurological Phenotypes
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Duodenal atresia in 17q12 microdeletion including <i>HNF1B</i>: A new associated malformation in this syndrome