Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Metabolism and Genetic Disorders.
Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association
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
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
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
<scp> <i>PPP3CA</i> </scp> truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
Dominant-negative mutations in human <i>IL6ST</i> underlie hyper-IgE syndrome
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Reanalysis of Clinical Exome Sequencing Data
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Use of Exome Sequencing for Infants in Intensive Care Units
<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects