Dennis Bartholomew

Dennis Bartholomew

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Dennis Bartholomew

Dennis Bartholomew

Publications by authors named "Dennis Bartholomew"

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31Publications

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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 Jan 29;87(2):100-112. Epub 2019 Jun 29.

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

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

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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http://dx.doi.org/10.1038/s41436-018-0407-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620164PMC
August 2019

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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http://dx.doi.org/10.1055/s-0039-1677734DOI Listing
April 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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http://dx.doi.org/10.1038/s41409-018-0147-zDOI Listing
August 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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http://dx.doi.org/10.1002/ajmg.a.38178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353PMC
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

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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http://dx.doi.org/10.1007/8904_2014_332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4241199PMC
November 2014

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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http://dx.doi.org/10.1016/j.pediatrneurol.2014.06.015DOI Listing
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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http://dx.doi.org/10.1016/j.ejmg.2013.09.007DOI Listing
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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http://dx.doi.org/10.1016/j.ymgme.2012.06.005DOI Listing
August 2012

Docosahexaenoic Acid and Amino Acid Contents in Pasteurized Donor Milk are Low for Preterm Infants.

J Pediatr 2010 Dec 17;157(6):906-10. Epub 2010 Sep 17.

Neonatal Nutrition Team, Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.06.017DOI Listing
December 2010

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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http://dx.doi.org/10.1007/s00246-008-9351-8DOI Listing
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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http://doi.wiley.com/10.1002/ajmg.a.30592
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http://dx.doi.org/10.1002/ajmg.a.30592DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.20501DOI Listing
November 2003