Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, and BRCA gene mutations in cancer.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Recessive variants in <i>COL25A1</i> gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Delineation of a novel neurodevelopmental syndrome associated with <i>PAX5</i> haploinsufficiency
<i>KCND2</i> variants associated with global developmental delay differentially impair Kv4.2 channel gating
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Maternal vitamin C regulates reprogramming of DNA methylation and germline development