Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Genomics and Rare Diseases, Vascular Anomalies and Treatments, Genomic variations and chromosomal abnormalities, and Genetics and Neurodevelopmental Disorders.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Homozygous <i>GDF2</i> nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children
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
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Elevated Leukodystrophy Incidence Predicted From Genomics Databases
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome
Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder
Pathogenic variants that alter protein code often disrupt splicing
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension