Dr. Michael Wangler, MD

• Genetics

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• Molecular And Human Genetics Baylor College Of Medicine

  Fellowship Hospital, 2011

• Texas Children's Hospital/baylor College Of Medicine

  Residency Hospital, 2009

• Texas Children's Hospital/baylor College Of Medicine

  Internship Hospital, 2007

• Baylor University

  Medical School, 2006

• Washington University In St Louis

  2004

• University Of California San Diego

  Undergraduate School, 2000

• In Vivo Functional Study of Disease-Associated Rare Human Variants using Drosophila, 2019-08-20

• ADrosophilagenetic resource of mutants to study mechanisms underlying human genetic diseases, 2014-09-25

• Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling inDrosophila, 2011-08-06

• Biallelic Mutations inATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder, 2018-02-22

• Drosophilaand genome-wide association studies: a review and resource for the functional dissection of human complex traits, 2017-02-01

• A homozygous mutation inPEX16identified by whole-exome sequencing ending a diagnostic odyssey, 2015-12-01

• ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research, 2022-03-24

• AHDC1missense mutations in Xia-Gibbs syndrome, 2021-08-10

• Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines, 2015-12-23

• Recurrent Arginine Substitutions in theACTG2Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy, 2019-12-19

• Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease, 2018-10-10

• Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research, 2017-08-31

• HeterozygousDe Novoand Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, 2014-03-27

• Loss or gain of function mutations inACOX1cause axonal loss via different mechanisms, 2020-03-12

• Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss ofGDF11, 2021-06-10

• Loss of Nardilysin, a mitochondrial co-chaperone for a-Ketoglutarate Dehydrogenase, promotes mTORC1 activation and neurodegeneration, 2016-12-22

• De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder, 2018-05-08

• Drosophilafunctional screening ofde novovariants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases, 2022-03-15

• Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data, 2022-04-21

• Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision, 2021-05-07

• Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia, 2022-07-07

• Complex effects on CaV2.1 channel gating caused by aCACNA1Avariant associated with a severe neurodevelopmental disorder, 2022-06-02

• Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse, 2017-06-22

• AnSCN1BVariant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders, 2020-09-29

• The phenotypic spectrum of Xia-Gibbs syndrome, 2018-04-25

• Germline mutation inPOLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation, 2020-11-20

• Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management, 2017-12-04

• ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models, 2021-10-29

• Dataset for a case report of a homozygous PEX16 F332del mutation, 2015-12-17

• A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers, 2018-02-08

• Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder, 2022-10-27

• Disruptive mutations inTANC2define a neurodevelopmental syndrome associated with psychiatric disorders, 2019-10-15