Publications by authors named "Dennis Bartholomew"

33Publications

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Authors:
Jirair K Bedoyan Rosemary Hage Ha Kyung Shin Sharon Linard Edwin Ferren Nicole Ducich Kirkland Wilson April Lehman Lori-Anne Schillaci Kandamurugu Manickam Mari Mori Dennis Bartholomew Suzanne DeBrosse Bruce Cohen Sumit Parikh Douglas Kerr

JIMD Rep 2020 Nov 16;56(1):70-81. Epub 2020 Aug 16.

Pediatrics CWRU Cleveland Ohio USA.

View Article and Find Full Text PDF
November 2020

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

Authors:
Marialetizia Motta Luca Pannone Francesca Pantaleoni Gianfranco Bocchinfuso Francesca Clementina Radio Serena Cecchetti Andrea Ciolfi Martina Di Rocco Mariet W Elting Eva H Brilstra Stefania Boni Laura Mazzanti Federica Tamburrino Larry Walsh Katelyn Payne Alberto Fernández-Jaén Mythily Ganapathi Wendy K Chung Dorothy K Grange Ashita Dave-Wala Shalini C Reshmi Dennis W Bartholomew Danielle Mouhlas Giovanna Carpentieri Alessandro Bruselles Simone Pizzi Emanuele Bellacchio Francesca Piceci-Sparascio Christina Lißewski Julia Brinkmann Ronald R Waclaw Quinten Waisfisz Koen van Gassen Ingrid M Wentzensen Michelle M Morrow Sara Álvarez Mónica Martínez-García Alessandro De Luca Luigi Memo Giuseppe Zampino Cesare Rossi Marco Seri Bruce D Gelb Martin Zenker Bruno Dallapiccola Lorenzo Stella Carlos E Prada Simone Martinelli Elisabetta Flex Marco Tartaglia

Am J Hum Genet 2020 09 27;107(3):499-513. Epub 2020 Jul 27.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address:

View Article and Find Full Text PDF
September 2020

Characterization of the renal phenotype in RMND1-related mitochondrial disease.

Authors:
Brian J Shayota Nhon T Le Nasim Bekheirnia Jill A Rosenfeld Amy C Goldstein Michael Moritz Dennis W Bartholomew Matthew T Pastore Fan Xia Christine Eng Yaping Yang Dolores J Lamb Fernando Scaglia Michael C Braun Mir Reza Bekheirnia

Mol Genet Genomic Med 2019 12 30;7(12):e973. Epub 2019 Sep 30.

Texas Children's Hospital, Houston, TX, USA.

View Article and Find Full Text PDF
December 2019

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:

View Article and Find Full Text PDF
January 2020

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

Authors:
George A Diaz Andreas Schulze Nicola Longo William Rhead Annette Feigenbaum Derek Wong J Lawrence Merritt William Berquist Renata C Gallagher Dennis Bartholomew Shawn E McCandless Wendy E Smith Cary O Harding Roberto Zori Uta Lichter-Konecki Jerry Vockley Colleen Canavan Thomas Vescio Robert J Holt Susan A Berry

Mol Genet Metab 2019 08 10;127(4):336-345. Epub 2019 Jul 10.

University of Minnesota, Minneapolis, MN, USA.

View Article and Find Full Text PDF
August 2019

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Authors:
Catherine J Spellicy Yunhui Peng Leah Olewiler Sara S Cathey R Curtis Rogers Dennis Bartholomew Jacob Johnson Emil Alexov Jennifer A Lee Michael J Friez Julie R Jones

J Hum Genet 2019 Jun 11;64(6):561-572. Epub 2019 Mar 11.

Greenwood Genetic Center, Greenwood, SC, 29646, USA.

View Article and Find Full Text PDF
June 2019

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.

Authors:
Megan A Waldrop Matthew Pastore Rachel Schrader Emily Sites Dennis Bartholomew Chang-Yong Tsao Kevin M Flanigan

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

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

View Article and Find Full Text PDF
April 2019

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

Authors:
Kim L McBride Jill Pluciniczak Timothy Rhyand Dennis Bartholomew

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.

View Article and Find Full Text PDF
August 2019

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

Authors:
Lubna S Mehyar Rolla Abu-Arja Hemalatha G Rangarajan Vinita Pai Dennis W Bartholomew Melissa J Rose Rajinder P S Bajwa

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.

View Article and Find Full Text PDF
August 2018

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

Authors:
Daniel C Koboldt Theresa Mihalic Mosher Benjamin J Kelly Emily Sites Dennis Bartholomew Scott E Hickey Kim McBride Richard K Wilson Peter White

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.

View Article and Find Full Text PDF
June 2018

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Authors:
Xi Luo Jill A Rosenfeld Shinya Yamamoto Tamar Harel Zhongyuan Zuo Melissa Hall Klaas J Wierenga Matthew T Pastore Dennis Bartholomew Mauricio R Delgado Joshua Rotenberg Richard Alan Lewis Lisa Emrick Carlos A Bacino Mohammad K Eldomery Zeynep Coban Akdemir Fan Xia Yaping Yang Seema R Lalani Timothy Lotze James R Lupski Brendan Lee Hugo J Bellen Michael F Wangler

PLoS Genet 2017 Jul 24;13(7):e1006905. Epub 2017 Jul 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America.

View Article and Find Full Text PDF
July 2017

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

Authors:
Débora Bertola Michelle Buscarilli Deborah L Stabley Laura Baker Daniel Doyle Dennis W Bartholomew Katia Sol-Church Karen W Gripp

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.

View Article and Find Full Text PDF
May 2017

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

Authors:
Patricia G Wheeler Bobby G Ng Laura Sanford V Reid Sutton Dennis W Bartholomew Matthew T Pastore Michael J Bamshad Martin Kircher Kati J Buckingham Deborah A Nickerson Jay Shendure Hudson H Freeze

Am J Med Genet A 2016 12 2;170(12):3165-3171. Epub 2016 Aug 2.

Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.

View Article and Find Full Text PDF
December 2016

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Authors:
Adriana M Montaño Ngu Lock-Hock Robert D Steiner Brett H Graham Marina Szlago Robert Greenstein Mercedes Pineda Antonio Gonzalez-Meneses Mahmut Çoker Dennis Bartholomew Mark S Sands Raymond Wang Roberto Giugliani Alfons Macaya Gregory Pastores Anastasia K Ketko Fatih Ezgü Akemi Tanaka Laila Arash Michael Beck Rena E Falk Kaustuv Bhattacharya José Franco Klane K White Grant A Mitchell Loreta Cimbalistiene Max Holtz William S Sly

J Med Genet 2016 06 23;53(6):403-18. Epub 2016 Feb 23.

Edward A. Doisy Department of Biochemistry and Molecular Biology, School of Medicine, Saint Louis University, St. Louis, Missouri, USA.

View Article and Find Full Text PDF
June 2016

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

Authors:
Sandesh C S Nagamani George A Diaz William Rhead Susan A Berry Cynthia Le Mons Uta Lichter-Konecki James Bartley Annette Feigenbaum Andreas Schulze Nicola Longo William Berquist Renata Gallagher Dennis Bartholomew Cary O Harding Mark S Korson Shawn E McCandless Wendy Smith Jerry Vockley David Kronn Robert Zori Stephen Cederbaum J Lawrence Merritt Derek Wong Dion F Coakley Bruce F Scharschmidt Klara Dickinson Miguel Marino Brendan H Lee Masoud Mokhtarani

Mol Genet Metab 2015 Sep-Oct;116(1-2):29-34. Epub 2015 Aug 5.

Horizon Therapeutics Inc., 2000 Sierra Point Parkway Suite 400, Brisbane, CA 94005, USA.

View Article and Find Full Text PDF
July 2016

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

Authors:
Kitiwan Rojnueangnit Jing Xie Alicia Gomes Angela Sharp Tom Callens Yunjia Chen Ying Liu Meagan Cochran Mary-Alice Abbott Joan Atkin Dusica Babovic-Vuksanovic Christopher P Barnett Melissa Crenshaw Dennis W Bartholomew Lina Basel Gary Bellus Shay Ben-Shachar Martin G Bialer David Bick Bruce Blumberg Fanny Cortes Karen L David Anne Destree Anna Duat-Rodriguez Dawn Earl Luis Escobar Marthanda Eswara Begona Ezquieta Ian M Frayling Moshe Frydman Kathy Gardner Karen W Gripp Concepcion Hernández-Chico Kurt Heyrman Jennifer Ibrahim Sandra Janssens Beth A Keena Isabel Llano-Rivas Kathy Leppig Marie McDonald Vinod K Misra Jennifer Mulbury Vinodh Narayanan Naama Orenstein Patricia Galvin-Parton Helio Pedro Eniko K Pivnick Cynthia M Powell Linda Randolph Salmo Raskin Jordi Rosell Karol Rubin Margretta Seashore Christian P Schaaf Angela Scheuerle Meredith Schultz Elizabeth Schorry Rhonda Schnur Elizabeth Siqveland Amanda Tkachuk James Tonsgard Meena Upadhyaya Ishwar C Verma Stephanie Wallace Charles Williams Elaine Zackai Jonathan Zonana Conxi Lazaro Kathleen Claes Bruce Korf Yolanda Martin Eric Legius Ludwine Messiaen

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.

View Article and Find Full Text PDF
November 2015

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Authors:
Brendan Lee George A Diaz William Rhead Uta Lichter-Konecki Annette Feigenbaum Susan A Berry Cindy Le Mons James A Bartley Nicola Longo Sandesh C Nagamani William Berquist Renata Gallagher Dennis Bartholomew Cary O Harding Mark S Korson Shawn E McCandless Wendy Smith Stephen Cederbaum Derek Wong J Lawrence Merritt Andreas Schulze Jerry Vockley Gerard Vockley David Kronn Roberto Zori Marshall Summar Douglas A Milikien Miguel Marino Dion F Coakley Masoud Mokhtarani Bruce F Scharschmidt

Genet Med 2015 Jul 11;17(7):561-8. Epub 2014 Dec 11.

Hyperion Therapeutics, Brisbane, California, USA.

View Article and Find Full Text PDF
July 2015

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Authors:
Seema R Lalani Jing Zhang Christian P Schaaf Chester W Brown Pilar Magoulas Anne Chun-Hui Tsai Areeg El-Gharbawy Klaas J Wierenga Dennis Bartholomew Chin-To Fong Tina Barbaro-Dieber Mary K Kukolich Lindsay C Burrage Elise Austin Kory Keller Matthew Pastore Fabio Fernandez Timothy Lotze Angus Wilfong Gabriela Purcarin Wenmiao Zhu William J Craigen Marianne McGuire Mahim Jain Erin Cooney Mahshid Azamian Matthew N Bainbridge Donna M Muzny Eric Boerwinkle Richard E Person Zhiyv Niu Christine M Eng James R Lupski Richard A Gibbs Arthur L Beaudet Yaping Yang Meng C Wang Fan Xia

Am J Hum Genet 2014 Nov 16;95(5):579-83. Epub 2014 Oct 16.

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

View Article and Find Full Text PDF
November 2014

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

Authors:
Alma Kuechler Marjolein H Willemsen Beate Albrecht Carlos A Bacino Dennis W Bartholomew Hans van Bokhoven Marie Jose H van den Boogaard Nuria Bramswig Christian Büttner Kirsten Cremer Johanna Christina Czeschik Hartmut Engels Koen van Gassen Elisabeth Graf Mieke van Haelst Weimin He Jacob S Hogue Marlies Kempers David Koolen Glen Monroe Sonja de Munnik Matthew Pastore André Reis Miriam S Reuter David H Tegay Joris Veltman Gepke Visser Peter van Hasselt Eric E J Smeets Lisenka Vissers Thomas Wieland Willemijn Wissink Helger Yntema Alexander Michael Zink Tim M Strom Hermann-Josef Lüdecke Tjitske Kleefstra Dagmar Wieczorek

Hum Genet 2015 Jan 19;134(1):97-109. Epub 2014 Oct 19.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany,

View Article and Find Full Text PDF
January 2015

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

Authors:
Deanna M Horst Lynne Ruess Jerome A Rusin Dennis W Bartholomew

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.

View Article and Find Full Text PDF
November 2014

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

Authors:
Mari Mori John R Mytinger Lisa C Martin Dennis Bartholomew Scott Hickey

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

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

View Article and Find Full Text PDF
November 2014

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

Authors:
Ruthann B Pfau Devon Lamb Thrush Elizabeth Hamelberg Dennis Bartholomew Shaun Botes Matthew Pastore Christopher Tan Daniela del Gaudio Julie M Gastier-Foster Caroline Astbury

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.

View Article and Find Full Text PDF
November 2013

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

Authors:
George A Diaz Lauren S Krivitzky Masoud Mokhtarani William Rhead James Bartley Annette Feigenbaum Nicola Longo William Berquist Susan A Berry Renata Gallagher Uta Lichter-Konecki Dennis Bartholomew Cary O Harding Stephen Cederbaum Shawn E McCandless Wendy Smith Gerald Vockley Stephen A Bart Mark S Korson David Kronn Roberto Zori J Lawrence Merritt Sandesh C S Nagamani Joseph Mauney Cynthia Lemons Klara Dickinson Tristen L Moors Dion F Coakley Bruce F Scharschmidt Brendan Lee

Hepatology 2013 Jun 3;57(6):2171-9. Epub 2013 Jan 3.

Mount Sinai School of Medicine, Department of Genetics and Genomic Sciences, Department of Pediatrics, New York, NY, USA.

View Article and Find Full Text PDF
June 2013

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Authors:
Carlos E Prada Ajay Kaul Robert J Hopkin Kimberley I Page Jaimie D Nathan Dennis W Bartholomew Mitchell B Cohen James E Heubi Nancy D Leslie T Andrew Burrow

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.

View Article and Find Full Text PDF
August 2012

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

Authors:
Michael E Talkowski Sureni V Mullegama Jill A Rosenfeld Bregje W M van Bon Yiping Shen Elena A Repnikova Julie Gastier-Foster Devon Lamb Thrush Sekar Kathiresan Douglas M Ruderfer Colby Chiang Carrie Hanscom Carl Ernst Amelia M Lindgren Cynthia C Morton Yu An Caroline Astbury Louise A Brueton Klaske D Lichtenbelt Lesley C Ades Marco Fichera Corrado Romano Jeffrey W Innis Charles A Williams Dennis Bartholomew Margot I Van Allen Aditi Parikh Lilei Zhang Bai-Lin Wu Robert E Pyatt Stuart Schwartz Lisa G Shaffer Bert B A de Vries James F Gusella Sarah H Elsea

Am J Hum Genet 2011 Oct;89(4):551-63

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

View Article and Find Full Text PDF
October 2011

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

Authors:
Christina J Valentine Georgia Morrow Soledad Fernandez Parul Gulati Dennis Bartholomew Don Long Stephen E Welty Ardythe L Morrow Lynette K Rogers

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

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

View Article and Find Full Text PDF
December 2010

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Authors:
Catherine E Cottrell Thomas W Prior Robert Pyatt Caroline Astbury Shalini Reshmi Dennis Bartholomew Joan Atkin Kandamurugu Manickam Devon Lamb Thrush Matthew Pastore Jerry Mendell Chang-Yong Tsao Roula Al-Dahhak Amy Newmeyer Julie M Gastier-Foster

Am J Med Genet A 2010 Sep;152A(9):2301-7

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.

View Article and Find Full Text PDF
September 2010

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

Authors:
Blake C Ballif Aaron Theisen Jill A Rosenfeld Ryan N Traylor Julie Gastier-Foster Devon Lamb Thrush Caroline Astbury Dennis Bartholomew Kim L McBride Robert E Pyatt Kate Shane Wendy E Smith Valerie Banks William B Gallentine Pamela Brock M Katharine Rudd Margaret P Adam Julia A Keene John A Phillips Jean P Pfotenhauer Gordon C Gowans Pawel Stankiewicz Bassem A Bejjani Lisa G Shaffer

Am J Hum Genet 2010 Mar 4;86(3):454-61. Epub 2010 Mar 4.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

View Article and Find Full Text PDF
March 2010

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

Authors:
Peter C Dyke Laura Konczal Dennis Bartholomew Kim L McBride Timothy M Hoffman

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.

View Article and Find Full Text PDF
May 2009

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

Authors:
Dennis William Bartholomew

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.

View Article and Find Full Text PDF
July 2007

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

Authors:
Chang Y Tsao Gail D Wenger Dennis W Bartholomew

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

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

View Article and Find Full Text PDF
April 2005

Cystic fibrosis--a genetic dilemma.

Authors:
Robert E Frank Dennis W Bartholomew

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

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

View Article and Find Full Text PDF
September 2004

Craniofacial-deafness-hand syndrome revisited.

Authors:
Annemarie Sommer Dennis W Bartholomew

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.

View Article and Find Full Text PDF
November 2003