Area of research
Genetics · Molecular Biology
Research interest
Research interests include Congenital heart defects research, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Genomic variations and chromosomal abnormalities.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
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
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
The microRNA processor<i>DROSHA</i>is a candidate gene for a severe progressive neurological disorder
Delineation of a novel neurodevelopmental syndrome associated with <i>PAX5</i> haploinsufficiency
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
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
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
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
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
IRF2BPL Is Associated with Neurological Phenotypes
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Use of Exome Sequencing for Infants in Intensive Care Units
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome