Publications by authors named "Scott E Hickey"

29Publications

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.

Cleft Palate Craniofac J 2020 Aug 13:1055665620947985. Epub 2020 Aug 13.

Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1177/1055665620947985DOI Listing
August 2020

Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Genet Med 2020 Sep;22(9):1568

Department of Pediatrics/Human Development, Spectrum Health Hospitals and College of Medicine, Michigan State University, Grand Rapids, MI, USA.

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http://dx.doi.org/10.1038/s41436-020-0891-5DOI Listing
September 2020

Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Genet Med 2020 Jun 12. Epub 2020 Jun 12.

Department of Pediatrics/Human Development, Spectrum Health Hospitals and College of Medicine, Michigan State University, Grand Rapids, MI, USA.

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http://dx.doi.org/10.1038/s41436-020-0843-0DOI Listing
June 2020

Early-onset Wilson disease caused by exon skipping associated with intronic variant.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1101/mcs.a005306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304350PMC
June 2020

Novel in-frame deletion causes Larsen syndrome in a three-generation pedigree.

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1101/mcs.a004176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913154PMC
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:

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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

Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

Eur J Med Genet 2020 Mar 12;63(3):103735. Epub 2019 Aug 12.

The Institute for Genomic Medicine at Nationwide Children's Hospital, USA; The Ohio State University College of Medicine, Department of Pathology, USA; The Ohio State University College of Medicine, Department of Pediatrics, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103735DOI Listing
March 2020

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Eur J Med Genet 2020 Jan 2;63(1):103636. Epub 2019 Mar 2.

Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, 43205, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.02.008DOI Listing
January 2020

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

Cytogenet Genome Res 2017 27;152(2):105-109. Epub 2017 Jul 27.

Division of Molecular and Human Genetics, Columbus, OH, USA.

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http://dx.doi.org/10.1159/000478921DOI Listing
September 2017

17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.

Eur J Med Genet 2016 Oct 12;59(10):512-6. Epub 2016 Sep 12.

Division of Molecular & Human Genetics, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5064849PMC
http://dx.doi.org/10.1016/j.ejmg.2016.09.006DOI Listing
October 2016

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

Hum Mol Genet 2016 Apr 11;25(7):1255-70. Epub 2016 Jan 11.

Center for Regenerative Medicine, Division of Plastic and Reconstructive Surgery, Harvard Medical School, Harvard University, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddw006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787901PMC
April 2016

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Eur J Med Genet 2014 Jul 10;57(7):315-8. Epub 2014 May 10.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.04.018DOI Listing
July 2014

Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy.

Case Rep Endocrinol 2013 19;2013:524647. Epub 2013 Dec 19.

Division of Neonatology, Nationwide Children's Hospital/The Ohio State University College of Medicine, Columbus, OH 43205, USA.

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http://www.hindawi.com/journals/crie/2013/524647/
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http://dx.doi.org/10.1155/2013/524647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880733PMC
January 2014

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Eur J Med Genet 2013 Sep 26;56(9):521-5. Epub 2013 Jul 26.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.07.004DOI Listing
September 2013

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Eur J Med Genet 2013 Sep 13;56(9):510-4. Epub 2013 Jul 13.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.05.010DOI Listing
September 2013

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Genet Med 2013 Feb 3;15(2):153-6. Epub 2013 Jan 3.

Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1038/gim.2012.165DOI Listing
February 2013

Malingering by proxy: a form of pediatric condition falsification.

J Dev Behav Pediatr 2003 Aug;24(4):276-8

Division of Pediatric Gastroenterology and Nutrition, University of Louisville School of Medicine, Louisville, KY 40202, USA.

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http://dx.doi.org/10.1097/00004703-200308000-00009DOI Listing
August 2003

Recurrent abdominal pain in children: past, present, and future.

J Ky Med Assoc 2002 Oct;100(10):435-40

Department of Pediatrics, Division of Pediatric Gastroenterology and Nutrition, University of Louisville School of Medicine, Medical Towers North, 233 East Gray Street, Suite 513, Louisville, KY 40202, USA.

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October 2002