Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, and Genomic variations and chromosomal abnormalities.
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
<i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
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
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
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
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
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
IRF2BPL Is Associated with Neurological Phenotypes
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