Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research focused on Phenotype and Genetics, with related work in Neurodevelopmental disorder, Loss function, Organism. Notable publications include 'MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome', 'De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability', and 'The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease'.
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
DOCKopathies: A systematic review of the clinical pathologies associated with human <i>DOCK</i> pathogenic variants
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
VarSight: prioritizing clinically reported variants with binary classification algorithms
IRF2BPL Is Associated with Neurological Phenotypes
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
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
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3