Publications by authors named "Dennis Bartholomew"

33Publications

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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January 2020

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.

Neuropediatrics 2019 04 21;50(2):96-102. Epub 2019 Jan 21.

Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States.

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April 2019

Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.

Genet Med 2019 08 10;21(8):1821-1826. Epub 2019 Jan 10.

Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.

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August 2019

Matched unrelated donor transplantation in glycogen storage disease type 1b patient corrects severe neutropenia and recurrent infections.

Bone Marrow Transplant 2018 08 7;53(8):1076-1078. Epub 2018 Mar 7.

Division of Pediatric Hematology, Oncology and Bone Marrow Transplant, Nationwide Children's Hospital, Columbus, OH, USA.

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August 2018

A de novo nonsense mutation in shared by siblings with Bainbridge-Ropers syndrome.

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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June 2018

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Am J Med Genet A 2017 May 3;173(5):1309-1318. Epub 2017 Apr 3.

Center for Applied Clinical Genomics, A. I. duPont Hospital for Children/Nemours, Wilmington, Delaware.

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May 2017

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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November 2015

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

Pediatr Neurol 2014 Nov 26;51(5):734-6. Epub 2014 Jun 26.

Center for Molecular and Human Genetics, Nationwide Children's Hospital Research Institute, Columbus, Ohio; Department of Pediatrics, The Ohio State University College of Medicine and Public Health, Columbus, Ohio.

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November 2014

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

JIMD Rep 2014 21;17:47-51. Epub 2014 Sep 21.

Section of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, OH, USA,

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November 2014

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Eur J Med Genet 2013 Nov 27;56(11):609-13. Epub 2013 Sep 27.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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November 2013

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Mol Genet Metab 2012 Aug 15;106(4):482-4. Epub 2012 Jun 15.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.

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August 2012

Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.

Pediatr Cardiol 2009 May 16;30(4):523-6. Epub 2008 Dec 16.

Department of Pediatrics, Nationwide Children's Hospital Heart Center, Columbus, OH 43205-2696, USA.

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May 2009

Potential and pitfalls of NBS, and the reference lab's role.

MLO Med Lab Obs 2007 Jul;39(7):12, 14-6, 19; quiz 26-7

Genetics Laboratory, Department of Pathology, Children's Hospital, Columbus, Ohio, USA.

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July 2007

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

Am J Med Genet A 2005 Apr;134A(2):198-201

Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA.

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April 2005

Cystic fibrosis--a genetic dilemma.

J Insur Med 2004 ;36(2):158-61

Union Central Life Insurance Company, Cincinnati, OH 45240, USA.

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September 2004

Craniofacial-deafness-hand syndrome revisited.

Am J Med Genet A 2003 Nov;123A(1):91-4

Human and Molecular Genetics, Department of Pediatrics, The Ohio State University and Children's Hospital, Columbus, Ohio 43205-2696, USA.

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November 2003