Publications by authors named "Nicholas Stong"

34Publications

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.

Am J Med Genet A 2020 May 22. Epub 2020 May 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.61630DOI Listing
May 2020

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.

Genet Med 2020 Jul 5;22(7):1269-1275. Epub 2020 May 5.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1038/s41436-020-0781-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335342PMC
July 2020

Modification of the disease phenotype by a mutation in .

Ophthalmic Genet 2019 08 6;40(4):369-375. Epub 2019 Sep 6.

Department of Ophthalmology, Columbia University , New York , New York , USA.

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http://dx.doi.org/10.1080/13816810.2019.1660382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777736PMC
August 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):221-222. Epub 2018 Mar 2.

Department of Neurology Columbia University Medical Center New York NY.

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http://dx.doi.org/10.1002/mdc3.12580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336413PMC
March 2018

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Lancet 2019 02 31;393(10173):758-767. Epub 2019 Jan 31.

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)32042-7DOI Listing
February 2019

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.

Am J Hum Genet 2019 02 24;104(2):299-309. Epub 2019 Jan 24.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Division of Integrative Genomics, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA; Duke Center for Statistical Genetics and Genomics, Duke University, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369453PMC
February 2019

Late-onset pattern macular dystrophy mimicking and disease is caused by a homozygous frameshift mutation in .

Cold Spring Harb Mol Case Stud 2019 06 3;5(3). Epub 2019 Jun 3.

Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
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http://dx.doi.org/10.1101/mcs.a003624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549556PMC
June 2019

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

J Pediatr 2017 12;191:266-269.e1

Department of Pediatrics, Columbia University, New York, NY; Department of Pathology and Cell Biology, Columbia University, New York, NY.

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http://dx.doi.org/10.1016/j.jpeds.2017.08.029DOI Listing
December 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017