Brett S. Abrahams

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index12.2kcitations52works0.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(29), Autism Spectrum Disorder Research(25), Congenital heart defects research(14), Genomic variations and chromosomal abnormalities(12), CRISPR and Genetic Engineering(5)

Publications52 total

Discovery of IACS-52825, a Potent and Selective DLK Inhibitor for Treatment of Chemotherapy-Induced Peripheral Neuropathy
Journal of Medicinal Chemistry·2023· 20 citedOpen Access
Cholesterol 24-hydroxylase is a novel pharmacological target for anti-ictogenic and disease modification effects in epilepsy
Neurobiology of Disease·2022· 18 citedOpen Access
Soticlestat, a novel cholesterol 24‐hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice
Epilepsia·2021· 61 citedOpen Access
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
UNC Libraries·2020Open Access
Functional impact of global rare copy number variation in autism spectrum disorders
UNC Libraries·2020Open Access
Common genetic variants on 5p14.1 associate with autism spectrum disorders
UNC Libraries·2020· 61 citedOpen Access
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
UNC Libraries·2020Open Access
Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits
Cell·2020· 110 citedOpen Access
Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome
Frontiers in Behavioral Neuroscience·2019· 45 citedOpen Access
Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage
Biological Psychiatry·2019· 14 citedOpen Access
Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome (P1.323)
Neurology·2018· 1 cited
Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration
Brain and Language·2017· 12 cited
A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus
PLoS ONE·2016· 36 citedOpen Access
Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks
PLoS ONE·2016· 35 citedOpen Access
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L
PLoS ONE·2015· 24 citedOpen Access
Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR
Molecular Psychiatry·2014· 120 citedOpen Access
Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder
PLoS Genetics·2014· 104 citedOpen Access
MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER
2014· 10 citedOpen Access
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Molecular Autism·2013· 897 citedOpen Access
The Disruption of<i>Celf6</i>, a Gene Identified by Translational Profiling of Serotonergic Neurons, Results in Autism-Related Behaviors
Journal of Neuroscience·2013· 100 citedOpen Access
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Frequent Co-authors

Daniel H. Geschwind(17), Géraldine Dawson(7), Joseph Glessner(7), Lisa I. Sonnenblick(7), Annette Estes(6), Clara Lajonchere(6), William M. McMahon(6), Edward I. Herman(6), Elizabeth M. Simpson(6), Richard Anney(5), Regina Regan(5), Tiago R. Magalhães(5), Catarina Correia(5), Elena Bacchelli(5), Anthony Bailey(5), Gillian Baird(5), Agatino Battaglia(5), T. P. Berney(5), Nadia Bolshakova(5), Thomas Bourgeron(5)