Area of research
Genetics
Research interest
Research interests include Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Connective tissue disorders research, and Genomic variations and chromosomal abnormalities.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
Germline selection shapes human mitochondrial DNA diversity
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9