Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genomics and Rare Diseases, BRCA gene mutations in cancer, Genetics and Neurodevelopmental Disorders, and Autism Spectrum Disorder Research.
<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
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
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
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
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
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Molecular diagnostic experience of whole-exome sequencing in adult patients
<i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype