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Publications by Brent L. Fogel
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings
Annals of Neurology
Neurology
C9ORF72expansion Is Not a Significant Cause of Sporadic Spinocerebellar Ataxia
Movement Disorders
Neurology
Mutation of Senataxin Alters Disease-Specific Transcriptional Networks in Patients With Ataxia With Oculomotor Apraxia Type 2
Human Molecular Genetics
Medicine
Genetics
Molecular Biology