Robert J Hopkin

Robert J Hopkin

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Robert J Hopkin

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Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Exp Neurol 2019 Oct 25;320:112961. Epub 2019 May 25.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA.; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA.. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2019.112961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708453PMC
October 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 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Mol Genet Genomic Med 2019 Sep 7:e969. Epub 2019 Sep 7.

Division of Endocrinology, Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/mgg3.969DOI Listing
September 2019

Disruptive variants of associate with autism and interfere with neuronal development and synaptic transmission.

Sci Adv 2019 Sep 25;5(9):eaax2166. Epub 2019 Sep 25.

Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

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http://dx.doi.org/10.1126/sciadv.aax2166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760934PMC
September 2019

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.

J Perinatol 2019 Aug 18;39(8):1072-1077. Epub 2019 Jun 18.

Division of Neurology, Cincinnati Children's Hospital, Cincinnati, OH, USA.

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http://dx.doi.org/10.1038/s41372-019-0407-9DOI Listing
August 2019

Prenatal evaluation of the Sakoda complex.

Pediatr Radiol 2019 Aug 5. Epub 2019 Aug 5.

Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH, 45229, USA.

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http://dx.doi.org/10.1007/s00247-019-04491-5DOI Listing
August 2019

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.

Am J Med Genet A 2019 Jun 20;179(6):1010-1014. Epub 2019 Mar 20.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.61018DOI Listing
June 2019

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Mol Genet Metab 2019 05 3;127(1):86-94. Epub 2019 Apr 3.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2019.03.010DOI Listing
May 2019

Genomic education for the next generation of health-care providers.

Genet Med 2019 May 21. Epub 2019 May 21.

Department of Medicine, Biomedical Genetics Section, Boston University School of Medicine, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41436-019-0548-4DOI Listing
May 2019

CNTNAP1-Related Congenital Hypomyelinating Neuropathy.

Pediatr Neurol 2019 Apr 28;93:43-49. Epub 2018 Dec 28.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.12.014DOI Listing
April 2019

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.

Genet Med 2018 12 15;20(12):1538-1543. Epub 2018 Mar 15.

Division of Human Genetics, Cincinnati Children's Hospital and Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1038/gim.2018.34DOI Listing
December 2018

Congenital lumbar hernia-A feature of diabetic embryopathy?

Am J Med Genet A 2018 11 1;176(11):2243-2249. Epub 2018 Oct 1.

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.40381DOI Listing
November 2018

Comparison of Native T1, Strain, and Traditional Measures of Cardiovascular Structure and Function by Cardiac Magnetic Resonance Imaging in Patients With Anderson-Fabry Disease.

Am J Cardiol 2018 09 22;122(6):1074-1078. Epub 2018 Jun 22.

Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029149183124
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http://dx.doi.org/10.1016/j.amjcard.2018.06.007DOI Listing
September 2018

Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease.

Am J Med Genet A 2018 09 4;176(9):1852-1857. Epub 2018 Sep 4.

The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://doi.wiley.com/10.1002/ajmg.a.40369
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http://dx.doi.org/10.1002/ajmg.a.40369DOI Listing
September 2018

Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Hum Mutat 2018 03 11;39(3):389-393. Epub 2018 Jan 11.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/humu.23392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805577PMC
March 2018

Left ventricular dysfunction in a patient with Angelman syndrome.

Clin Dysmorphol 2018 Jan;27(1):21-22

Department of Pediatric Cardiology, The Heart Institute.

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http://dx.doi.org/10.1097/MCD.0000000000000203DOI Listing
January 2018

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Am J Med Genet A 2017 Nov 28;173(11):3075-3081. Epub 2017 Sep 28.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.38382DOI Listing
November 2017

Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease.

Am J Cardiol 2017 Jul 27;120(2):251-255. Epub 2017 Apr 27.

Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.amjcard.2017.04.016DOI Listing
July 2017

Variable phenotype in a novel mutation in PHOX2B.

Am J Med Genet A 2017 Jun 19;173(6):1705-1709. Epub 2017 Apr 19.

Division of Human Genetics, Cincinnati Children's Hospital and Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38218DOI Listing
June 2017

Adherence to Symptom-Based Care Guidelines for Down Syndrome.

Clin Pediatr (Phila) 2017 Feb 19;56(2):150-156. Epub 2016 Jul 19.

3 Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/0009922816652416DOI Listing
February 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

Mol Genet Metab 2016 09 13;119(1-2):151-9. Epub 2016 Jun 13.

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.007DOI Listing
September 2016

Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood.

Am J Med Genet A 2016 08 5;170(8):2083-8. Epub 2016 May 5.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.37730DOI Listing
August 2016

Contributions to Racial Disparity in Mortality among Children with Down Syndrome.

J Pediatr 2016 07 7;174:240-246.e1. Epub 2016 Apr 7.

Thomas Center for Down Syndrome, Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2016.03.023DOI Listing
July 2016

Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences.

Clin Pediatr (Phila) 2016 May 17;55(5):421-7. Epub 2015 Jun 17.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/0009922815589911DOI Listing
May 2016

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.

J Pediatr 2016 Apr 29;171:262-8.e1-2. Epub 2016 Jan 29.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2015.12.026DOI Listing
April 2016

The management and treatment of children with Fabry disease: A United States-based perspective.

Mol Genet Metab 2016 Feb 23;117(2):104-13. Epub 2015 Oct 23.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead 305H, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.10.007DOI Listing
February 2016

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

J Allergy Clin Immunol 2016 Jan 17;137(1):179-187.e10. Epub 2015 Jul 17.

Division of Immunology, Allergy and Rheumatology, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715656PMC
January 2016

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

J Pediatr 2015 Oct 29;167(4):851-856.e1. Epub 2015 Jul 29.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.

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http://dx.doi.org/10.1016/j.jpeds.2015.07.001DOI Listing
October 2015

Fabry disease in infancy and early childhood: a systematic literature review.

Genet Med 2015 May 18;17(5):323-30. Epub 2014 Sep 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2014.120DOI Listing
May 2015

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Am J Hum Genet 2015 May 23;96(5):765-74. Epub 2015 Apr 23.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570288PMC
May 2015

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

Eur J Med Genet 2015 Mar 12;58(3):180-3. Epub 2014 Dec 12.

Centro de Medicina Genómica y Metabolismo, Fundación Cardiovascular de Colombia, Floridablanca, Colombia; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.009DOI Listing
March 2015

Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments.

JIMD Rep 2015 8;18:41-50. Epub 2015 Jan 8.

Division of Gerontology, Geriatrics and Palliative Care, Department of Medicine, University of Alabama at Birmingham, CH19 218T, 1720 2nd Ave. So., Birmingham, AL, 35294-2041, USA,

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http://dx.doi.org/10.1007/8904_2014_346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361921PMC
March 2015

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.

Prenat Diagn 2014 Dec 26;34(13):1326-31. Epub 2014 Aug 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/pd.4475DOI Listing
December 2014

Cost analysis of mandibular distraction versus tracheostomy in neonates with Pierre Robin sequence.

Otolaryngol Head Neck Surg 2014 Nov 22;151(5):811-8. Epub 2014 Jul 22.

Division of Plastic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA These authors contributed equally to this project.

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http://journals.sagepub.com/doi/10.1177/0194599814542759
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http://dx.doi.org/10.1177/0194599814542759DOI Listing
November 2014

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Am J Med Genet A 2014 Oct 4;164A(10):2607-12. Epub 2014 Aug 4.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.36688DOI Listing
October 2014

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Eur J Med Genet 2014 Jul 24;57(7):339-344. Epub 2014 Apr 24.

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

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http://dx.doi.org/10.1016/j.ejmg.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065856PMC
July 2014

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Am J Med Genet A 2014 Apr 23;164A(4):1062-8. Epub 2014 Jan 23.

Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://doi.wiley.com/10.1002/ajmg.a.36390
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http://dx.doi.org/10.1002/ajmg.a.36390DOI Listing
April 2014

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

J Child Neurol 2013 Dec 8;28(12):1681-5. Epub 2012 Nov 8.

1Department of Pediatrics, Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1177/0883073812464273DOI Listing
December 2013

Variable presentation between a mother and a fetus with Goltz syndrome.

Prenat Diagn 2013 Dec 12;33(12):1211-3. Epub 2013 Sep 12.

Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR, USA.

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http://dx.doi.org/10.1002/pd.4216DOI Listing
December 2013

Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

J Genet Couns 2013 Oct 17;22(5):555-64. Epub 2013 Jul 17.

Medical Genetics, Emory University, 2165 North Decatur Road, Decatur, GA, 30033, USA,

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http://dx.doi.org/10.1007/s10897-013-9613-3DOI Listing
October 2013

Renal complications of Fabry disease in children.

Pediatr Nephrol 2013 May 17;28(5):679-87. Epub 2012 Aug 17.

Department of Pathology, University of Washington, 1959 NE Pacific St., Seattle, WA 98195, USA.

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http://dx.doi.org/10.1007/s00467-012-2222-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3811930PMC
May 2013

Fractures in children with neurofibromatosis type 1 from two NF clinics.

Am J Med Genet A 2013 May 25;161A(5):921-6. Epub 2013 Mar 25.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.35541DOI Listing
May 2013

An update of childhood genetic disorders.

J Nurs Scholarsh 2013 Mar 7;45(1):34-42. Epub 2013 Jan 7.

Children's Hospital, Cincinnati, OH, USA.

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http://doi.wiley.com/10.1111/jnu.12003
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http://dx.doi.org/10.1111/jnu.12003DOI Listing
March 2013

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa.

Mol Genet Metab 2012 Nov 17;107(3):456-61. Epub 2012 Sep 17.

Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center-University Hospital Sophia Children's Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

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http://www.neuromuscular.ru/project/www.neuromuscular.ru/fil
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http://linkinghub.elsevier.com/retrieve/pii/S109671921200356
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http://dx.doi.org/10.1016/j.ymgme.2012.09.015DOI Listing
November 2012

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.

Am J Med Genet A 2012 Aug 18;158A(8):1971-6. Epub 2012 Jun 18.

Division of Human Genetics, Department of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.35428DOI Listing
August 2012

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

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

J Pediatr 2012 Mar 11;160(3):461-7. Epub 2011 Oct 11.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.051DOI Listing
March 2012

Genetic causes of macroglossia: diagnostic approach.

Pediatrics 2012 Feb 16;129(2):e431-7. Epub 2012 Jan 16.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-1732DOI Listing
February 2012

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes.

Prenat Diagn 2012 Jan;32(1):75-82

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/pd.2911DOI Listing
January 2012

Severe cervical scoliosis in the fetus.

Prenat Diagn 2011 Dec 26;31(12):1198-202. Epub 2011 Oct 26.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1002/pd.2898DOI Listing
December 2011

Media coverage of direct-to-consumer genetic testing.

J Genet Couns 2011 Oct 3;20(5):486-94. Epub 2011 Jun 3.

Department of Communication, University of Cincinnati, Cincinnati, OH 45221-0184, USA.

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http://dx.doi.org/10.1007/s10897-011-9374-9DOI Listing
October 2011

Lethal presentation of neurofibromatosis and Noonan syndrome.

Am J Med Genet A 2011 Jun 12;155A(6):1360-6. Epub 2011 May 12.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.33996DOI Listing
June 2011

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

Am J Med Genet A 2011 Jun 12;155A(6):1409-13. Epub 2011 May 12.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.33997DOI Listing
June 2011

Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.

J Child Neurol 2011 Feb 10;26(2):223-7. Epub 2010 Sep 10.

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, OH 45229-3039, USA.

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http://journals.sagepub.com/doi/10.1177/0883073810379638
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http://dx.doi.org/10.1177/0883073810379638DOI Listing
February 2011

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Rheumatology (Oxford) 2010 Jun 18;49(6):1056-62. Epub 2010 Mar 18.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1093/rheumatology/keq048DOI Listing
June 2010

Acute progression of neuromuscular findings in infantile Pompe disease.

Pediatr Neurol 2010 Jun;42(6):455-8

Division of Human Genetics, Department of Pediatrics, University of Cincinnati, and Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.02.006DOI Listing
June 2010

Severe micrognathia: indications for EXIT-to-Airway.

Fetal Diagn Ther 2009 18;26(3):162-6. Epub 2009 Sep 18.

Fetal Care Center of Cincinnati, Divisions of Pediatric General, Thoracic, and Fetal Surgery, Otolaryngology, Genetics, and Maternal Fetal Medicine, Cincinnati Children's Hospital, University Hospital, Good Samaritan Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

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https://www.karger.com/Article/FullText/240162
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http://dx.doi.org/10.1159/000240162DOI Listing
March 2010

A case of minimal change disease in a Fabry patient.

Pediatr Nephrol 2010 Mar 30;25(3):553-6. Epub 2009 Oct 30.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1007/s00467-009-1353-0DOI Listing
March 2010

Evaluation of growth in patients with isolated cleft lip and/or cleft palate.

Pediatrics 2010 Mar 8;125(3):e543-9. Epub 2010 Feb 8.

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1542/peds.2009-1656DOI Listing
March 2010

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Pediatr Dev Pathol 2009 Sep-Oct;12(5):417-20

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.2350/09-03-0628-CR.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2916925PMC
December 2009

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

J Pediatr 2009 Oct;155(4):560-5

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760900377
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http://dx.doi.org/10.1016/j.jpeds.2009.04.010DOI Listing
October 2009

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.

Am J Med Genet A 2009 Aug;149A(8):1691-7

Cincinnati Children's Hospital Medical Center, Ohio 45229, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32966
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http://dx.doi.org/10.1002/ajmg.a.32966DOI Listing
August 2009

Phenotypic and microscopic description of a new case of Ermine phenotype.

Am J Med Genet A 2009 Jun;149A(6):1253-6

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.32815DOI Listing
June 2009

Characterization of congenital anomalies in individuals with choanal atresia.

Arch Otolaryngol Head Neck Surg 2009 Jun;135(6):543-7

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.

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http://archotol.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archoto.2009.53DOI Listing
June 2009

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Pediatr Res 2008 Nov;64(5):550-5

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1203/PDR.0b013e318183f132DOI Listing
November 2008

Fabry's disease.

Lancet 2008 Oct;372(9647):1427-35

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

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http://dx.doi.org/10.1016/S0140-6736(08)61589-5DOI Listing
October 2008

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

Curr Opin Pediatr 2007 Dec;19(6):628-35

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229-3039, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2007/12000/Enzyme
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http://dx.doi.org/10.1097/MOP.0b013e3282f161f2DOI Listing
December 2007

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.

Am J Med Genet A 2007 Feb;143A(3):265-70

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

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http://dx.doi.org/10.1002/ajmg.a.31519DOI Listing
February 2007

Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status.

Genet Med 2007 Feb;9(2):101-7

College of Allied Health Sciences, University of Cincinnati, OH, USA.

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http://dx.doi.org/10.1097GIM.0b013e3180306899DOI Listing
February 2007