Scott Barish

American Journal of Human Genetics 10.1016/j.ajhg.2024.10.002 Post-print Humans, Male, Neurodevelopmental Disorders, Female, Zebrafish, Homozygote, Animals, Child, Child, Preschool, Pedigree, Adolescent, Phenotype, Infant, Mutation, Bile Acids and Salts, Exome Sequencing, Adult, WDR83OS, ASTERIX, PAT complex, CCDC47, hypercholanemia, pruritus, developmental delay, intellectual disability, ER translocation yes Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; et al., "Homozygous Variants in...

The American Journal of Human Genetics 10.1016/j.ajhg.2023.09.009 Post-print yes Humans, Congenital Abnormalities, Developmental Disabilities, Drosophila, Drosophila Proteins, Gain of Function Mutation, Histone-Lysine N-Methyltransferase, Histones, Lysine, Methylation, Methyltransferases, Neoplasms, DOT1 Like histone lysine methyltransferase, DOT1L, histone lysine methyltransferase, H3K79 methylation, Drosophila, grappa, gpp, gain of function, developmental delay, congenital anomalies

1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA 2Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA 3Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK 4Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey 5Division of Gastroenterology, Department of Pediatrics, Prince Sultan Military Medical City,...