Hsiao-Tuan Chao Department of Molecular and Human Genetics Baylor College of Medicine Biography Publications Institution JoVE Articles Hsiao-Tuan Chao has not added a biography. If you are Hsiao-Tuan Chao and would like to personalize this page please email our Author Liaison for assistance. Publications DYRK1A-related Intellectual Disability: a Syndrome Associated with Congenital Anomalies of the Kidney and Urinary Tract Genetics in Medicine : Official Journal of the American College of Medical Genetics. Jul, 2019 | Pubmed ID: 31263215 Recurrent Mosaic MTOR C.5930C > T (p.Thr1977Ile) Variant Causing Megalencephaly, Asymmetric Polymicrogyria, and Cutaneous Pigmentary Mosaicism: Case Report and Review of the Literature American Journal of Medical Genetics. Part A. Mar, 2019 | Pubmed ID: 30569621 Identification of Novel Candidate Disease Genes from De Novo Exonic Copy Number Variants Genome Medicine. 09, 2017 | Pubmed ID: 28934986 Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research Genetics. 09, 2017 | Pubmed ID: 28874452 Clinical and Molecular Characterization of De Novo Loss of Function Variants in HNRNPU American Journal of Medical Genetics. Part A. Oct, 2017 | Pubmed ID: 28815871 Building Dialogues Between Clinical and Biomedical Research Through Cross-species Collaborations Seminars in Cell & Developmental Biology. 10, 2017 | Pubmed ID: 28579453 MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome American Journal of Human Genetics. Jun, 2017 | Pubmed ID: 28502612 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 American Journal of Human Genetics. Jan, 2017 | Pubmed ID: 28017372 Investigation of Synapse Formation and Function in a Glutamatergic-GABAergic Two-neuron Microcircuit The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Jan, 2014 | Pubmed ID: 24431444 Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Dec, 2013 | Pubmed ID: 24336718 Etiology of a Genetically Complex Seizure Disorder in Celf4 Mutant Mice Genes, Brain, and Behavior. Oct, 2011 | Pubmed ID: 21745337 Dysfunction in GABA Signalling Mediates Autism-like Stereotypies and Rett Syndrome Phenotypes Nature. Nov, 2010 | Pubmed ID: 21068835 Binding of the Complexin N Terminus to the SNARE Complex Potentiates Synaptic-vesicle Fusogenicity Nature Structural & Molecular Biology. May, 2010 | Pubmed ID: 20400951 Loss of MeCP2 in Aminergic Neurons Causes Cell-autonomous Defects in Neurotransmitter Synthesis and Specific Behavioral Abnormalities Proceedings of the National Academy of Sciences of the United States of America. Dec, 2009 | Pubmed ID: 20007372 Math1 is Essential for the Development of Hindbrain Neurons Critical for Perinatal Breathing Neuron. Nov, 2009 | Pubmed ID: 19914183 The Yin and Yang of MeCP2 Phosphorylation Proceedings of the National Academy of Sciences of the United States of America. Mar, 2009 | Pubmed ID: 19293386 Deletion of Mecp2 in Sim1-expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress Neuron. Sep, 2008 | Pubmed ID: 18817733 A Partial Loss of Function Allele of Methyl-CpG-binding Protein 2 Predicts a Human Neurodevelopmental Syndrome Human Molecular Genetics. Jun, 2008 | Pubmed ID: 18321864 MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number Neuron. Oct, 2007 | Pubmed ID: 17920015 Distinct Domains of Complexin I Differentially Regulate Neurotransmitter Release Nature Structural & Molecular Biology. Oct, 2007 | Pubmed ID: 17828276 Studio funzionale in vivo sulle varianti umane rare associate alla malattia utilizzando la Drosophila J. Michael Harnish*1, Samantha L. Deal*2, Hsiao-Tuan Chao1,3,4,5, Michael F. Wangler1,2,4, Shinya Yamamoto1,2,4,5 1Department of Molecular and Human Genetics, Baylor College of Medicine, 2Program in Developmental Biology, Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Neuroscience, Baylor College of Medicine JoVE 59658 Genética
Studio funzionale in vivo sulle varianti umane rare associate alla malattia utilizzando la Drosophila J. Michael Harnish*1, Samantha L. Deal*2, Hsiao-Tuan Chao1,3,4,5, Michael F. Wangler1,2,4, Shinya Yamamoto1,2,4,5 1Department of Molecular and Human Genetics, Baylor College of Medicine, 2Program in Developmental Biology, Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Neuroscience, Baylor College of Medicine JoVE 59658 Genética