November 01, 2015 article Open access Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Neuron DOI: 10.1016/j.neuron.2015.09.048 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 5 stored of 347 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder 2025 The American Journal of Human Genetics article Medicine Fetal and Pediatric Neurological Disorders Open access 0 citations Clinical and molecular characterization of patients with YWHAG ‐related epilepsy 2024 Epilepsia article Medicine Epilepsy research and treatment Open access 11 citations Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders 2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 76 citations Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia 2022 Annals of Neurology article Neuroscience Hereditary Neurological Disorders Open access 9 citations Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia 2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access 34 citations 5 results References 0