Michael F. Wangler Department of Molecular and Human Genetics Baylor College of Medicine Biography Publications Institution JoVE Articles Michael F. Wangler has not added a biography. If you are Michael F. Wangler and would like to personalize this page please email our Author Liaison for assistance. Publications De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia American Journal of Human Genetics. Aug, 2019 | Pubmed ID: 31327508 The Fruit Fly at the Interface of Diagnosis and Pathogenic Mechanisms of Rare and Common Human Diseases Human Molecular Genetics. Jun, 2019 | Pubmed ID: 31227826 De Novo Missense Variant in the GTPase Effector Domain (GED) of Leads to Static Encephalopathy and Seizures Cold Spring Harbor Molecular Case Studies. Jun, 2019 | Pubmed ID: 30850373 Correction: Expanding the Clinical Phenotype of Individuals with a 3-bp In-frame Deletion of the NF1 Gene (c.2970_2972del): an Update of Genotype-phenotype Correlation Genetics in Medicine : Official Journal of the American College of Medical Genetics. 03, 2019 | Pubmed ID: 30275510 Expanding the Clinical Phenotype of Individuals with a 3-bp In-frame Deletion of the NF1 Gene (c.2970_2972del): an Update of Genotype-phenotype Correlation Genetics in Medicine : Official Journal of the American College of Medical Genetics. 04, 2019 | Pubmed ID: 30190611 Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease The New England Journal of Medicine. 11, 2018 | Pubmed ID: 30304647 IRF2BPL Is Associated with Neurological Phenotypes American Journal of Human Genetics. 08, 2018 | Pubmed ID: 30057031 De Novo Mutations in MED13, a Component of the Mediator Complex, Are Associated with a Novel Neurodevelopmental Disorder Human Genetics. May, 2018 | Pubmed ID: 29740699 Functional Variants in TBX2 Are Associated with a Syndromic Cardiovascular and Skeletal Developmental Disorder Human Molecular Genetics. 07, 2018 | Pubmed ID: 29726930 The Phenotypic Spectrum of Xia-Gibbs Syndrome American Journal of Medical Genetics. Part A. 06, 2018 | Pubmed ID: 29696776 Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms Developmental Cell. 04, 2018 | Pubmed ID: 29689197 The Expanding Neurological Phenotype of DNM1L-related Disorders Brain : a Journal of Neurology. 04, 2018 | Pubmed ID: 29529134 Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases Pediatric Clinics of North America. 04, 2018 | Pubmed ID: 29502918 Biallelic Mutations in ATP5F1D, Which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder American Journal of Human Genetics. Mar, 2018 | Pubmed ID: 29478781 A Metabolomic Map of Zellweger Spectrum Disorders Reveals Novel Disease Biomarkers Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10, 2018 | Pubmed ID: 29419819 Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management JAMA Pediatrics. 12, 2017 | Pubmed ID: 28973083 Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research Genetics. 09, 2017 | Pubmed ID: 28874452 Clinically Severe CACNA1A Alleles Affect Synaptic Function and Neurodegeneration Differentially PLoS Genetics. Jul, 2017 | Pubmed ID: 28742085 Peroxisomal Biogenesis is Genetically and Biochemically Linked to Carbohydrate Metabolism in Drosophila and Mouse PLoS Genetics. Jun, 2017 | Pubmed ID: 28640802 Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome American Journal of Human Genetics. Jul, 2017 | Pubmed ID: 28602422 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 Lessons Learned from Additional Research Analyses of Unsolved Clinical Exome Cases Genome Medicine. 03, 2017 | Pubmed ID: 28327206 Drosophila and Genome-wide Association Studies: a Review and Resource for the Functional Dissection of Human Complex Traits Disease Models & Mechanisms. 02, 2017 | Pubmed ID: 28151408 A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay American Journal of Human Genetics. Feb, 2017 | Pubmed ID: 28132692 Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes MTORC1 Activation and Neurodegeneration Neuron. Jan, 2017 | Pubmed ID: 28017472 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 American Journal of Human Genetics. Jan, 2017 | Pubmed ID: 28017372 Diagnosis of a Mild Peroxisomal Phenotype with Next-generation Sequencing Molecular Genetics and Metabolism Reports. Dec, 2016 | Pubmed ID: 27872819 Diagnosis of Adenylosuccinate Lyase Deficiency by Metabolomic Profiling in Plasma Reveals a Phenotypic Spectrum Molecular Genetics and Metabolism Reports. Sep, 2016 | Pubmed ID: 27504266 Missense Variants in the Middle Domain of DNM1L in Cases of Infantile Encephalopathy Alter Peroxisomes and Mitochondria when Assayed in Drosophila Human Molecular Genetics. 05, 2016 | Pubmed ID: 26931468 Peroxisome Biogenesis Disorders in the Zellweger Spectrum: An Overview of Current Diagnosis, Clinical Manifestations, and Treatment Guidelines Molecular Genetics and Metabolism. Mar, 2016 | Pubmed ID: 26750748 Fruit Flies in Biomedical Research Genetics. Mar, 2015 | Pubmed ID: 25624315 A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases Cell. Sep, 2014 | Pubmed ID: 25259927 De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea American Journal of Human Genetics. May, 2014 | Pubmed ID: 24791903 Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-microcolon-intestinal Hypoperistalsis Syndrome PLoS Genetics. Mar, 2014 | Pubmed ID: 24676022 Unusually Early Presentation of Small-bowel Adenocarcinoma in a Patient with Peutz-Jeghers Syndrome Journal of Pediatric Hematology/oncology. May, 2013 | Pubmed ID: 23426006 Atypical Presentation of Leigh Syndrome Associated with a Leber Hereditary Optic Neuropathy Primary Mitochondrial DNA Mutation Molecular Genetics and Metabolism. Jun, 2011 | Pubmed ID: 21414825 Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene American Journal of Human Genetics. Nov, 2010 | Pubmed ID: 21035103 在Vivo功能研究的疾病相关的稀有人类变异使用果蝇 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 Genetics
在Vivo功能研究的疾病相关的稀有人类变异使用果蝇 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 Genetics