Publications by authors named "Michael F Wangler"

59Publications

Biases in arginine codon usage correlate with genetic disease risk.

Genet Med 2020 Aug 6;22(8):1407-1412. Epub 2020 May 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41436-020-0813-6DOI Listing
August 2020

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Neuron 2020 05 12;106(4):589-606.e6. Epub 2020 Mar 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2020.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289150PMC
May 2020

Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.

J Pediatr Hematol Oncol 2019 Nov 14. Epub 2019 Nov 14.

Department of Pediatrics, Aflac Cancer & Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, GA.

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http://dx.doi.org/10.1097/MPH.0000000000001672DOI Listing
November 2019

Digital necrosis in an infant with severe spinal muscular atrophy.

Neurol Genet 2019 Oct 23;5(5):e361. Epub 2019 Sep 23.

Department of Molecular and Human Genetics (D.C., P.M., J.C.S., S.R.L., M.F.W.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (P.M., S.R.L., M.F.W.), Houston, TX; Baylor Genetics (J.C.S.), Houston, TX; Section of Palliative Medicine (J.A.J.), Department of Pediatrics, Baylor College of Medicine, Houston TX; and Jan and Dan Duncan Neurological Research Institute (M.F.W.), Texas Children's Hospital, Houston, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807655PMC
October 2019

A Genocentric Approach to Discovery of Mendelian Disorders.

Am J Hum Genet 2019 11 24;105(5):974-986. Epub 2019 Oct 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849092PMC
November 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

J Vis Exp 2019 08 20(150). Epub 2019 Aug 20.

Department of Molecular and Human Genetics, Baylor College of Medicine; Program in Developmental Biology, Baylor College of Medicine; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital; Department of Neuroscience, Baylor College of Medicine;

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http://dx.doi.org/10.3791/59658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418855PMC
August 2019

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.

Hum Mol Genet 2019 11;28(R2):R207-R214

Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA.

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http://dx.doi.org/10.1093/hmg/ddz135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872428PMC
November 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

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.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

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.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Dev Cell 2018 04;45(2):226-244.e8

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2018.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920516PMC
April 2018

The expanding neurological phenotype of DNM1L-related disorders.

Brain 2018 04;141(4):e28

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.

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http://dx.doi.org/10.1093/brain/awy024DOI Listing
April 2018

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.

Pediatr Clin North Am 2018 04;65(2):353-373

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.011DOI Listing
April 2018

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Genet Med 2018 10 8;20(10):1274-1283. Epub 2018 Feb 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2017.262DOI Listing
October 2018

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Am J Hum Genet 2017 Jun 11;100(6):843-853. Epub 2017 May 11.

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5670038PMC
June 2017

Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits.

Dis Model Mech 2017 02;10(2):77-88

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

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http://dx.doi.org/10.1242/dmm.027680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312009PMC
February 2017

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Neuron 2017 Jan 22;93(1):115-131. Epub 2016 Dec 22.

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.11.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242142PMC
January 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

Mol Genet Metab Rep 2016 Dec 11;9:75-78. Epub 2016 Nov 11.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States; Texas Children's Neurological Research Institute, Houston, TX 77030, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2016.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109284PMC
December 2016

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Hum Mol Genet 2016 05 29;25(9):1846-56. Epub 2016 Feb 29.

Department of Molecular and Human Genetics, Neurological Research Institute, Texas Children Hospital, Houston, TX 77030, USA

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http://dx.doi.org/10.1093/hmg/ddw059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007591PMC
May 2016

Dataset for a case report of a homozygous PEX16 F332del mutation.

Data Brief 2016 Mar 17;6:722-7. Epub 2015 Dec 17.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children׳s Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.dib.2015.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737951PMC
March 2016

A homozygous mutation in identified by whole-exome sequencing ending a diagnostic odyssey.

Mol Genet Metab Rep 2015 Dec;5:15-18

Department of Molecular and Human Genetics, BCM, Houston, TX, 77030 ; Texas Children's Hospital, Houston TX.

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http://dx.doi.org/10.1016/j.ymgmr.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669579PMC
December 2015

Fruit flies in biomedical research.

Genetics 2015 Mar 26;199(3):639-53. Epub 2015 Jan 26.

Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas 77030 Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas 77030 Program in Developmental Biology, Baylor College of Medicine (BCM), Texas 77030 Department of Neuroscience, Baylor College of Medicine (BCM), Texas 77030 Howard Hughes Medical Institute, Houston, Texas 77030

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http://dx.doi.org/10.1534/genetics.114.171785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349060PMC
March 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila.

Protein Cell 2011 Jul 6;2(7):554-63. Epub 2011 Aug 6.

Department of Biology, University of California at San Diego, San Diego, CA 92093, USA.

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http://dx.doi.org/10.1007/s13238-011-1073-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702159PMC
July 2011

Racial disparity in the frequency of recurrence of preterm birth.

Am J Obstet Gynecol 2007 Feb;196(2):131.e1-6

Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ajog.2006.06.093DOI Listing
February 2007

Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.

Am J Med Genet A 2005 Aug;137(1):16-21

Doris Duke Clinical Research Fellowship, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30827
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http://dx.doi.org/10.1002/ajmg.a.30827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947567PMC
August 2005

Factors associated with preterm delivery in mothers of children with Beckwith-Wiedemann syndrome: a case cohort study from the BWS registry.

Am J Med Genet A 2005 Apr;134A(2):187-91

Doris Duke Clinical Research Fellowship Washington University School of Medicine and the University of New Mexico School of Medicine, Albuquerque, New Mexico, USA.

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http://dx.doi.org/10.1002/ajmg.a.30595DOI Listing
April 2005