Publications by authors named "Kelly Schoch"

50Publications

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

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Authors:
Isabelle Cleynen Worrawat Engchuan Matthew S Hestand Tracy Heung Aaron M Holleman H Richard Johnston Thomas Monfeuga Donna M McDonald-McGinn Raquel E Gur Bernice E Morrow Ann Swillen Jacob A S Vorstman Carrie E Bearden Eva W C Chow Marianne van den Bree Beverly S Emanuel Joris R Vermeesch Stephen T Warren Michael J Owen Pankaj Chopra David J Cutler Richard Duncan Alex V Kotlar Jennifer G Mulle Anna J Voss Michael E Zwick Alexander Diacou Aaron Golden Tingwei Guo Jhih-Rong Lin Tao Wang Zhengdong Zhang Yingjie Zhao Christian Marshall Daniele Merico Andrea Jin Brenna Lilley Harold I Salmons Oanh Tran Peter Holmans Antonio Pardinas James T R Walters Wolfram Demaerel Erik Boot Nancy J Butcher Gregory A Costain Chelsea Lowther Rens Evers Therese A M J van Amelsvoort Esther van Duin Claudia Vingerhoets Jeroen Breckpot Koen Devriendt Elfi Vergaelen Annick Vogels T Blaine Crowley Daniel E McGinn Edward M Moss Robert J Sharkus Marta Unolt Elaine H Zackai Monica E Calkins Robert S Gallagher Ruben C Gur Sunny X Tang Rosemarie Fritsch Claudia Ornstein Gabriela M Repetto Elemi Breetvelt Sasja N Duijff Ania Fiksinski Hayley Moss Maria Niarchou Kieran C Murphy Sarah E Prasad Eileen M Daly Maria Gudbrandsen Clodagh M Murphy Declan G Murphy Antonio Buzzanca Fabio Di Fabio Maria C Digilio Maria Pontillo Bruno Marino Stefano Vicari Karlene Coleman Joseph F Cubells Opal Y Ousley Miri Carmel Doron Gothelf Ehud Mekori-Domachevsky Elena Michaelovsky Ronnie Weinberger Abraham Weizman Leila Kushan Maria Jalbrzikowski Marco Armando Stéphan Eliez Corrado Sandini Maude Schneider Frédérique Sloan Béna Kevin M Antshel Wanda Fremont Wendy R Kates Raoul Belzeaux Tiffany Busa Nicole Philip Linda E Campbell Kathryn L McCabe Stephen R Hooper Kelly Schoch Vandana Shashi Tony J Simon Flora Tassone Celso Arango David Fraguas Sixto García-Miñaúr Jaume Morey-Canyelles Jordi Rosell Damià H Suñer Jasna Raventos-Simic Michael P Epstein Nigel M Williams Anne S Bassett

Mol Psychiatry 2020 Feb 3. Epub 2020 Feb 3.

Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41380-020-0654-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396297PMC
February 2020

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

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

J Genet Couns 2018 08 2;27(4):935-946. Epub 2018 Jan 2.

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

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http://dx.doi.org/10.1007/s10897-017-0193-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028305PMC
August 2018

Annotating pathogenic non-coding variants in genic regions.

Nat Commun 2017 08 9;8(1):236. Epub 2017 Aug 9.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.

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http://dx.doi.org/10.1038/s41467-017-00141-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444PMC
August 2017

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

J Med Genet 2017 03 29;54(3):155-156. Epub 2016 Nov 29.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104306DOI Listing
March 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

J Genet Couns 2016 10 12;25(5):1019-31. Epub 2016 Feb 12.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103757, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10897-016-9933-1DOI Listing
October 2016

Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

J Genet Couns 2016 Feb 18;25(1):6-17. Epub 2015 Nov 18.

Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.

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http://dx.doi.org/10.1007/s10897-015-9910-0DOI Listing
February 2016

Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome.

J Genet Couns 2015 Oct 27;24(5):752-9. Epub 2014 Dec 27.

University of North Carolina-Greensboro, Greensboro, NC, USA.

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http://dx.doi.org/10.1007/s10897-014-9806-4DOI Listing
October 2015

Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome.

Res Dev Disabil 2013 Sep 7;34(9):2606-13. Epub 2013 Jun 7.

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

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http://dx.doi.org/10.1016/j.ridd.2013.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724343PMC
September 2013

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome.

Res Dev Disabil 2013 May 16;34(5):1758-69. Epub 2013 Mar 16.

Department of Psychiatry and The Carolina Institute for Developmental Disabilities, University of North Carolina School of Medicine, CB# 7255, Chapel Hill, NC 27599-7255, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08914222120032
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http://dx.doi.org/10.1016/j.ridd.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3783943PMC
May 2013

Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

J Genet Couns 2012 Dec 31;21(6):835-44. Epub 2012 Aug 31.

Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA.

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http://link.springer.com/10.1007/s10897-012-9535-5
Publisher Site
http://dx.doi.org/10.1007/s10897-012-9535-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508376PMC
December 2012

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Am J Med Genet A 2011 Sep 10;155A(9):2186-95. Epub 2011 Aug 10.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/ajmg.a.34226DOI Listing
September 2011

Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.

Asian J Psychiatr 2011 Jun;4(2):119-124

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

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http://dx.doi.org/10.1016/j.ajp.2011.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129857PMC
June 2011

Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Muscle Nerve 2010 Dec;42(6):975-9

Swami Clinic, Jayam Diabetic Center, Nalladai Road, Sembanarkoil, Nagai Dt., Tamilnadu 609309, India.

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http://dx.doi.org/10.1002/mus.21823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506871PMC
December 2010

Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Eur J Med Genet 2011 Jan-Feb;54(1):63-6. Epub 2010 Sep 29.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27712, USA.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.004DOI Listing
June 2011

COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.

Psychiatry Res 2010 Jul 20;178(2):433-6. Epub 2010 May 20.

Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1016/j.psychres.2010.04.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645485PMC
July 2010

A subset of mouse tracheal epithelial basal cells generates large colonies in vitro.

Am J Physiol Lung Cell Mol Physiol 2004 Apr 5;286(4):L631-42. Epub 2003 Sep 5.

UNC CF Cente, CB 7248, Rm. 4011 Thurston-Bowles, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1152/ajplung.00112.2003DOI Listing
April 2004