Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Metabolism and Genetic Disorders, Peroxisome Proliferator-Activated Receptors, Amino Acid Enzymes and Metabolism, and Genomics and Rare Diseases.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Insights into genetics, human biology and disease gleaned from family based genomic studies
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene
Guidelines for investigating causality of sequence variants in human disease
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
Implementing genomic medicine in the clinic: the future is here
Inactivation of the microRNA<i>-183/96/182</i>cluster results in syndromic retinal degeneration
SynaptomeDB: an ontology-based knowledgebase for synaptic genes
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions