November 14, 2023 article Open access Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Journal of Clinical Investigation DOI: 10.1172/jci171235 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 3 stored of 45 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 Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4 2026 Movement Disorders article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access 1 citations GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 2024 Research Square preprint Computer Science Face recognition and analysis Open access 4 citations GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 2023 medRxiv preprint Computer Science Face recognition and analysis Open access 25 citations 3 results References 2 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 Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders 2020 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 223 citations Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology 2022 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 26 citations 2 results