John C Carey

John C Carey

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John C Carey

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International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.

Authors:
Julián Nevado Karen S Ho Marcella Zollino Raquel Blanco César Cobaleda Christelle Golzio Isabelle Beaudry-Bellefeuille Sarah Berrocoso Jacobo Limeres Pilar Barrúz Candela Serrano-Martín Concetta Cafiero Ignacio Málaga Giuseppe Marangi Elena Campos-Sánchez Tania Moriyón-Iglesias Sorangui Márquez Leah Markham Hope Twede Amanda Lortz Lenora Olson Xiaoming Sheng Cindy Weng Edward Robert Wassman Tara Newcomb Edward Robert Wassman John C Carey Agatino Battaglia Eduardo López-Granados Damien Douglas Pablo Lapunzina

Am J Med Genet A 2019 Nov 25. Epub 2019 Nov 25.

Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.61406DOI Listing
November 2019

Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes.

Authors:
John C Carey

Am J Med Genet A 2019 Oct 14. Epub 2019 Oct 14.

Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.61370DOI Listing
October 2019

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Authors:
Minna Pekkinen Paulien A Terhal Lorenzo D Botto Petra Henning Riikka E Mäkitie Paul Roschger Amrita Jain Matthijs Kol Matti A Kjellberg Eleftherios P Paschalis Koen van Gassen Mary Murray Pinar Bayrak-Toydemir Maria K Magnusson Judith Jans Mehran Kausar John C Carey Pentti Somerharju Ulf H Lerner Vesa M Olkkonen Klaus Klaushofer Joost Cm Holthuis Outi Mäkitie

JCI Insight 2019 Apr 4;4(7). Epub 2019 Apr 4.

Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland, and Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Finland.

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http://dx.doi.org/10.1172/jci.insight.126180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641PMC
April 2019

Solid tumor screening recommendations in trisomy 18.

Authors:
Shannon G Farmakis Ann M Barnes John C Carey Stephen R Braddock

Am J Med Genet A 2019 03 13;179(3):455-466. Epub 2019 Jan 13.

Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine and SSM Cardinal Glennon Children's Hospital, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.61029DOI Listing
March 2019

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Authors:
Lindsay C Burrage John J Reynolds Nissan Vida Baratang Jennifer B Phillips Jeremy Wegner Ashley McFarquhar Martin R Higgs Audrey E Christiansen Denise G Lanza John R Seavitt Mahim Jain Xiaohui Li David A Parry Vandana Raman David Chitayat Ivan K Chinn Alison A Bertuch Lefkothea Karaviti Alan E Schlesinger Dawn Earl Michael Bamshad Ravi Savarirayan Harsha Doddapaneni Donna Muzny Shalini N Jhangiani Christine M Eng Richard A Gibbs Weimin Bi Lisa Emrick Jill A Rosenfeld John Postlethwait Monte Westerfield Mary E Dickinson Arthur L Beaudet Emmanuelle Ranza Celine Huber Valérie Cormier-Daire Wei Shen Rong Mao Jason D Heaney Jordan S Orange Débora Bertola Guilherme L Yamamoto Wagner A R Baratela Merlin G Butler Asim Ali Mehdi Adeli Daniel H Cohn Deborah Krakow Andrew P Jackson Melissa Lees Amaka C Offiah Colleen M Carlston John C Carey Grant S Stewart Carlos A Bacino Philippe M Campeau Brendan Lee

Am J Hum Genet 2019 03 14;104(3):422-438. Epub 2019 Feb 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408318PMC
March 2019

Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease.

Authors:
Liezl Domingo John C Carey Aaron Eckhauser Jacob Wilkes Shaji C Menon

Pediatr Cardiol 2019 Feb 5;40(2):349-356. Epub 2018 Oct 5.

Division of Pediatric Cardiology, University of Utah, Salt Lake City, UT, USA.

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http://link.springer.com/10.1007/s00246-018-2001-x
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http://dx.doi.org/10.1007/s00246-018-2001-xDOI Listing
February 2019

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Authors:
Prabakaran Paulraj Janice C Palumbos Amanda Openshaw John C Carey Reha M Toydemir

Cytogenet Genome Res 2018 16;156(4):191-196. Epub 2018 Nov 16.

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http://dx.doi.org/10.1159/000494871DOI Listing
February 2019

Testicular Seminoma in a Transgender Woman: A Case Report.

Authors:
Elizabeth J Kvach Jennifer S Hyer John C Carey Marci Bowers

LGBT Health 2019 01;6(1):40-42

3 Department of Obstetrics and Gynecology, Denver Health, Denver, Colorado.

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http://dx.doi.org/10.1089/lgbt.2018.0173DOI Listing
January 2019

Training Methods for Delivering Difficult News in Genetic Counseling and Genetics Residency Training Programs.

Authors:
Laila Andoni Wendy L Hobson John C Carey Karin M Dent

J Genet Couns 2018 12 27;27(6):1497-1505. Epub 2018 Jun 27.

Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/s10897-018-0271-3DOI Listing
December 2018

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Authors:
Agatino Battaglia Amy R U L Calhoun Amanda Lortz John C Carey

Am J Med Genet A 2018 11 5;176(11):2389-2394. Epub 2018 Oct 5.

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

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http://doi.wiley.com/10.1002/ajmg.a.40469
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http://dx.doi.org/10.1002/ajmg.a.40469DOI Listing
November 2018

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Authors:
John C Carey Raoul C M Hennekam Angela E Lin Mason Barr

Am J Med Genet A 2018 Aug 28;176(8):1703-1705. Epub 2018 Jul 28.

Teratology Unit, Departments of Pediatrics, Pathology and Obstetrics, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.38845DOI Listing
August 2018

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.

Authors:
Angela Peron Aglaia Vignoli Francesca La Briola Emanuela Morenghi Lucia Tansini Rosa Maria Alfano Gaetano Bulfamante Silvia Terraneo Filippo Ghelma Giuseppe Banderali David H Viskochil John C Carey Maria Paola Canevini

Eur J Med Genet 2018 Jul 9;61(7):403-410. Epub 2018 Feb 9.

Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Milan, Italy; Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2018.02.005DOI Listing
July 2018

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.

Authors:
Karen S Ho Leah M Markham Hope Twede Amanda Lortz Lenora M Olson Xiaoming Sheng Cindy Weng E Robert Wassman Tara Newcomb E Robert Wassman John C Carey Agatino Battaglia

Epilepsy Behav 2018 04 20;81:55-61. Epub 2018 Mar 20.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.12.008DOI Listing
April 2018

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

Authors:
Desiree DeMille Colleen M Carlston Oliver H Tam Janice C Palumbos Heather J Stalker Rong Mao Roberto T Zori David H Viskochil Albert H Park John C Carey

Am J Med Genet A 2018 Apr;176(4):945-950

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38648DOI Listing
April 2018

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

Authors:
Caitlin C Clements Tara L Wenger Alisa R Zoltowski Jennifer R Bertollo Judith S Miller Ashley B de Marchena Lauren M Mitteer John C Carey Benjamin E Yerys Elaine H Zackai Beverly S Emanuel Donna M McDonald-McGinn Robert T Schultz

Mol Autism 2017 27;8:58. Epub 2017 Oct 27.

Center for Autism Research, The Children's Hospital of Philadelphia, 2716 South Street, Philadelphia, PA 19104 USA.

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http://dx.doi.org/10.1186/s13229-017-0171-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658953PMC
February 2018

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Authors:
Wei Shen Jennifer M Heeley Colleen M Carlston Rocio Acuna-Hidalgo Willy M Nillesen Karin M Dent Ganka V Douglas Kara L Levine Pinar Bayrak-Toydemir Carlo L Marcelis Marwan Shinawi John C Carey

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Authors:
Kim M Keppler-Noreuil Kristin M Conway Dereck Shen Anthony J Rhoads John C Carey Paul A Romitti

Am J Med Genet A 2017 Nov 28;173(11):2873-2885. Epub 2017 Sep 28.

Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa.

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http://dx.doi.org/10.1002/ajmg.a.38469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650529PMC
November 2017

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Authors:
Colleen M Carlston Zeinab A Afify Janice C Palumbos Heidi Bagley Carlos Barbagelata Whitney L Wooderchak-Donahue Rong Mao John C Carey

Am J Med Genet A 2017 Oct 25;173(10):2622-2627. Epub 2017 Jul 25.

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.38360
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http://dx.doi.org/10.1002/ajmg.a.38360DOI Listing
October 2017

Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era.

Authors:
John C Carey

Am J Med Genet C Semin Med Genet 2017 09 2;175(3):320-328. Epub 2017 Aug 2.

Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.c.31568DOI Listing
September 2017

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Authors:
Kim M Keppler-Noreuil Julian A Martinez-Agosto Louanne Hudgins John C Carey

Am J Med Genet A 2017 08 24;173(8):2007-2073. Epub 2017 May 24.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.38229
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http://dx.doi.org/10.1002/ajmg.a.38229DOI Listing
August 2017

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Authors:
Silvio Alessandro Di Gioia Samantha Connors Norisada Matsunami Jessica Cannavino Matthew F Rose Nicole M Gilette Pietro Artoni Nara Lygia de Macena Sobreira Wai-Man Chan Bryn D Webb Caroline D Robson Long Cheng Carol Van Ryzin Andres Ramirez-Martinez Payam Mohassel Mark Leppert Mary Beth Scholand Christopher Grunseich Carlos R Ferreira Tyler Hartman Ian M Hayes Tim Morgan David M Markie Michela Fagiolini Amy Swift Peter S Chines Carlos E Speck-Martins Francis S Collins Ethylin Wang Jabs Carsten G Bönnemann Eric N Olson John C Carey Stephen P Robertson Irini Manoli Elizabeth C Engle

Nat Commun 2017 07 6;8:16077. Epub 2017 Jul 6.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/ncomms16077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504296PMC
July 2017

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Authors:
Nicola Dikow Martin Granzow Luitgard M Graul-Neumann Stephanie Karch Katrin Hinderhofer Nagarajan Paramasivam Laura-Jane Behl Lilian Kaufmann Christine Fischer Christina Evers Matthias Schlesner Roland Eils Guntram Borck Christiane Zweier Claus R Bartram John C Carey Ute Moog

Am J Med Genet A 2017 May 29;173(5):1369-1373. Epub 2017 Mar 29.

Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38164DOI Listing
May 2017

Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.

Authors:
John C Carey Edward B Clark

Am J Med Genet A 2017 05 28;173(5):1143-1144. Epub 2017 Mar 28.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38226DOI Listing
May 2017

Etiology and clinical presentation of birth defects: population based study.

Authors:
Marcia L Feldkamp John C Carey Janice L B Byrne Sergey Krikov Lorenzo D Botto

BMJ 2017 May 30;357:j2249. Epub 2017 May 30.

Division of Medical Genetics, Department of Pediatrics, 295 Chipeta Way, Suite 2S010, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448402PMC
http://dx.doi.org/10.1136/bmj.j2249DOI Listing
May 2017

Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.

Authors:
Antonio Perez-Aytes Purificacion Marin-Reina Virginia Boso Ana Ledo John C Carey Maximo Vento

Eur J Med Genet 2017 Jan 14;60(1):16-21. Epub 2016 Sep 14.

Neonatal Research Unit, Health Research Institute Hospital La Fe, University and Polytechnic Hospital La Fe, Valencia, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2016.09.014DOI Listing
January 2017

Much ado about something 2: Reflections on the state of the American Journal of Medical Genetics 2016.

Authors:
John C Carey

Am J Med Genet A 2016 Dec 28;170(12):3067-3068. Epub 2016 Oct 28.

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

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http://dx.doi.org/10.1002/ajmg.a.38037DOI Listing
December 2016

Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.

Authors:
John C Carey Janice C Palumbos

Indian J Pediatr 2016 Oct 8;83(10):1150-6. Epub 2016 Jan 8.

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 295 Chipeta Way, Salt Lake City, UT, 84108, USA.

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http://dx.doi.org/10.1007/s12098-015-1941-xDOI Listing
October 2016

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.

Authors:
Stephen R Braddock Sarah T South Joshua D Schiffman Maria Longhurst Leslie R Rowe John C Carey

Am J Med Genet A 2016 10 23;170(10):2580-6. Epub 2016 Aug 23.

Department of Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37870DOI Listing
October 2016

Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.

Authors:
Gene S Fisch Rena E Falk John C Carey Jaime Imitola Maria Sederberg Karen S Caravalho Sarah South

Am J Med Genet A 2016 09 9;170(9):2282-91. Epub 2016 Jun 9.

Department of Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37782DOI Listing
September 2016

Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes.

Authors:
Sasha E Andrews Ann G Downey David Scott Showalter Heather Fitzgerald Vivian P Showalter John C Carey Peter Hulac

Am J Med Genet C Semin Med Genet 2016 09 24;172(3):257-63. Epub 2016 Aug 24.

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http://dx.doi.org/10.1002/ajmg.c.31524DOI Listing
September 2016

Wilms tumor and trisomy 18: Is there an association?

Authors:
John C Carey Ann M Barnes

Am J Med Genet C Semin Med Genet 2016 Sep 26;172(3):307-8. Epub 2016 Aug 26.

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http://dx.doi.org/10.1002/ajmg.c.31523DOI Listing
September 2016

Perspectives on the care and advances in the management of children with trisomy 13 and 18.

Authors:
John C Carey Tomoki Kosho

Am J Med Genet C Semin Med Genet 2016 09;172(3):249-50

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http://dx.doi.org/10.1002/ajmg.c.31527DOI Listing
September 2016

Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.

Authors:
Anna K Ermarth John Pohl Brittany Esty Jessica K Sempler John C Carey Molly A O'Gorman

ACG Case Rep J 2016 Aug 21;3(4):e186. Epub 2016 Dec 21.

Departments of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah; Department of Pediatric Gastroenterology, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.14309/crj.2016.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226192PMC
August 2016

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Authors:
Karen W Gripp Margaret P Adam Louanne Hudgins John C Carey

Am J Med Genet A 2016 Jul 27;170(7):1665-726. Epub 2016 Apr 27.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37600DOI Listing
July 2016

Reported communication ability of persons with trisomy 18 and trisomy 13.

Authors:
Cheryl A Liang Barbara A Braddock Jennifer L Heithaus Katherine M Christensen Stephen R Braddock John C Carey

Dev Neurorehabil 2015 1;18(5):322-9. Epub 2013 Nov 1.

b Department of Pediatrics , University of Utah School of Medicine , Salt Lake City , UT , USA.

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http://trisomy.org/wp-content/uploads/2013/11/BBraddockCommu
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http://www.tandfonline.com/doi/full/10.3109/17518423.2013.84
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http://dx.doi.org/10.3109/17518423.2013.847980DOI Listing
May 2016

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Authors:
Anne-Mette Hartung Jeff Swensen Inaki E Uriz Morten Lapin Karen Kristjansdottir Ulrika S S Petersen Jeanne Mari V Bang Barbara Guerra Henriette Skovgaard Andersen Steven F Dobrowolski John C Carey Ping Yu Cecily Vaughn Amy Calhoun Martin R Larsen Lars Dyrskjøt David A Stevenson Brage S Andresen

PLoS Genet 2016 May 19;12(5):e1006039. Epub 2016 May 19.

Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.

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http://dx.doi.org/10.1371/journal.pgen.1006039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873146PMC
May 2016

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Authors:
Karen S Ho Sarah T South Amanda Lortz Charles H Hensel Mallory R Sdano Rena J Vanzo Megan M Martin Andreas Peiffer Christophe G Lambert Amy Calhoun John C Carey Agatino Battaglia

J Med Genet 2016 Apr 8;53(4):256-63. Epub 2016 Jan 8.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy.

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http://dx.doi.org/10.1136/jmedgenet-2015-103626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819617PMC
April 2016

Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

Authors:
Tomoki Kosho John C Carey

Am J Med Genet A 2016 Apr 8;170A(4):847-9. Epub 2016 Mar 8.

Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37610DOI Listing
April 2016

Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.

Authors:
Marcia L Feldkamp Lorenzo D Botto Janice L B Byrne Sergey Krikov John C Carey

Am J Med Genet A 2016 Feb 16;170A(2):306-315. Epub 2015 Oct 16.

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

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http://doi.wiley.com/10.1002/ajmg.a.37437
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http://dx.doi.org/10.1002/ajmg.a.37437DOI Listing
February 2016

Genetic differentials of child abuse: Is your case rare or real?

Authors:
Natasha Shur John C Carey

Am J Med Genet C Semin Med Genet 2015 Dec 29;169(4):281-8. Epub 2015 Oct 29.

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http://dx.doi.org/10.1002/ajmg.c.31464DOI Listing
December 2015

Resistance strength training exercise in children with spinal muscular atrophy.

Authors:
Aga Lewelt Kristin J Krosschell Gregory J Stoddard Cindy Weng Mei Xue Robin L Marcus Eduard Gappmaier Louis Viollet Barbara A Johnson Andrea T White Donata Viazzo-Trussell Philippe Lopes Robert H Lane John C Carey Kathryn J Swoboda

Muscle Nerve 2015 Oct;52(4):559-67

Department of Neurology, Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/mus.24568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506899PMC
October 2015

Risk factors for Dandy-Walker malformation: a population-based assessment.

Authors:
Matthew R Reeder Lorenzo D Botto Kim M Keppler-Noreuil John C Carey Janice L B Byrne Marcia L Feldkamp

Am J Med Genet A 2015 Sep 1;167A(9):2009-16. Epub 2015 May 1.

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

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http://dx.doi.org/10.1002/ajmg.a.37124DOI Listing
September 2015

Wolf-Hirschhorn syndrome: A review and update.

Authors:
Agatino Battaglia John C Carey Sarah T South

Am J Med Genet C Semin Med Genet 2015 Sep 4;169(3):216-23. Epub 2015 Aug 4.

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http://dx.doi.org/10.1002/ajmg.c.31449DOI Listing
September 2015

35(th) Annual David W Smith Workshop on Malformations and Morphogenesis: abstracts of the 2014 annual meeting.

Authors:
Stephen R Braddock Robert J Lipinski Marc S Williams John C Carey

Am J Med Genet A 2015 Aug 22;167A(8):1685-740. Epub 2015 May 22.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37107DOI Listing
August 2015

Reflections on the etiology of structural birth defects: Established teratogens and risk factors.

Authors:
Marcia L Feldkamp Lorenzo D Botto John C Carey

Birth Defects Res A Clin Mol Teratol 2015 Aug 20;103(8):652-5. Epub 2015 Jun 20.

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

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http://dx.doi.org/10.1002/bdra.23392DOI Listing
August 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Authors:
Jessica X Chong Lindsay C Burrage Anita E Beck Colby T Marvin Margaret J McMillin Kathryn M Shively Tanya M Harrell Kati J Buckingham Carlos A Bacino Mahim Jain Yasemin Alanay Susan A Berry John C Carey Richard A Gibbs Brendan H Lee Deborah Krakow Jay Shendure Deborah A Nickerson Michael J Bamshad

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Authors:
Jessica X Chong Margaret J McMillin Kathryn M Shively Anita E Beck Colby T Marvin Jose R Armenteros Kati J Buckingham Naomi T Nkinsi Evan A Boyle Margaret N Berry Maureen Bocian Nicola Foulds Maria Luisa Giovannucci Uzielli Chad Haldeman-Englert Raoul C M Hennekam Paige Kaplan Antonie D Kline Catherine L Mercer Malgorzata J M Nowaczyk Jolien S Klein Wassink-Ruiter Elizabeth W McPherson Regina A Moreno Angela E Scheuerle Vandana Shashi Cathy A Stevens John C Carey Arnaud Monteil Philippe Lory Holly K Tabor Joshua D Smith Jay Shendure Deborah A Nickerson Michael J Bamshad

Am J Hum Genet 2015 Mar 12;96(3):462-73. Epub 2015 Feb 12.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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March 2015

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

Authors:
Sonja A Rasmussen Sonia Hernandez-Diaz Omar A Abdul-Rahman Leyla Sahin Carey R Petrie Kim M Keppler-Noreuil Sharon E Frey Robin M Mason Mirjana Nesin John C Carey

Clin Infect Dis 2014 Dec;59 Suppl 7:S428-36

University of Utah School of Medicine, Salt Lake City.

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December 2014

A diagnostic paradigm including cytomegalovirus testing for idiopathic pediatric sensorineural hearing loss.

Authors:
Albert H Park Melanie Duval Stephanie McVicar James F Bale Nancy Hohler John C Carey

Laryngoscope 2014 Nov 26;124(11):2624-9. Epub 2014 Jun 26.

Division of Otolaryngology-Head and Neck Surgery, Salt Lake City, Utah, U.S.A.

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November 2014

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.

Authors:
Tomoki Kosho Noriko Miyake John C Carey

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):241-51. Epub 2014 Aug 28.

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September 2014

Academia, advocacy, and industry: a collaborative method for clinical research advancement.

Authors:
Rena J Vanzo Amanda Lortz Amy R U L Calhoun John C Carey

Am J Med Genet A 2014 Jul 3;164A(7):1619-21. Epub 2014 Apr 3.

Lineagen, Inc, Salt Lake City, Utah.

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July 2014

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Authors:
Margaret J McMillin Anita E Beck Jessica X Chong Kathryn M Shively Kati J Buckingham Heidi I S Gildersleeve Mariana I Aracena Arthur S Aylsworth Pierre Bitoun John C Carey Carol L Clericuzio Yanick J Crow Cynthia J Curry Koenraad Devriendt David B Everman Alan Fryer Kate Gibson Maria Luisa Giovannucci Uzielli John M Graham Judith G Hall Jacqueline T Hecht Randall A Heidenreich Jane A Hurst Sarosh Irani Ingrid P C Krapels Jules G Leroy David Mowat Gordon T Plant Stephen P Robertson Elizabeth K Schorry Richard H Scott Laurie H Seaver Elliott Sherr Miranda Splitt Helen Stewart Constance Stumpel Sehime G Temel David D Weaver Margo Whiteford Marc S Williams Holly K Tabor Joshua D Smith Jay Shendure Deborah A Nickerson Michael J Bamshad

Am J Hum Genet 2014 May 10;94(5):734-44. Epub 2014 Apr 10.

Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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May 2014

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Authors:
Erica F Andersen John C Carey Dawn L Earl Deyanira Corzo Michael Suttie Peter Hammond Sarah T South

Eur J Hum Genet 2014 Apr 21;22(4):464-70. Epub 2013 Aug 21.

1] Cytogenetics Department, ARUP Laboratories, Salt Lake City, UT, USA [2] Department of Pathology, University of Utah, Salt Lake City, UT, USA [3] Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953918PMC
April 2014

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.

Authors:
Vijaya Kancherla Paul A Romitti Lixian Sun John C Carey Trudy L Burns Anna Maria Siega-Riz Charlotte M Druschel Angela E Lin Richard S Olney

Eur J Med Genet 2014 Apr 24;57(5):220-9. Epub 2014 Feb 24.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520237PMC
April 2014

Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18.

Authors:
Nansi S Boghossian Nellie I Hansen Edward F Bell Barbara J Stoll Jeffrey C Murray John C Carey Ira Adams-Chapman Seetha Shankaran Michele C Walsh Abbot R Laptook Roger G Faix Nancy S Newman Ellen C Hale Abhik Das Leslie D Wilson Angelita M Hensman Cathy Grisby Monica V Collins Diana M Vasil Joanne Finkle Deanna Maffett M Bethany Ball Conra B Lacy Rebecca Bara Rosemary D Higgins

Pediatrics 2014 Feb 20;133(2):226-35. Epub 2014 Jan 20.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904274PMC
February 2014

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Authors:
Kathryn J Swoboda Rebecca L Margraf John C Carey Holly Zhou Tara M Newcomb Emily Coonrod Jacob Durtschi Kalyan Mallempati Attila Kumanovics Ben E Katz Karl V Voelkerding John M Opitz

Am J Med Genet A 2014 Jan 20;164A(1):17-28. Epub 2013 Nov 20.

Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349522PMC
January 2014

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

Authors:
Agatino Battaglia Viola Doccini Laura Bernardini Antonio Novelli Sara Loddo Anna Capalbo Tiziana Filippi John C Carey

Eur J Paediatr Neurol 2013 Nov 24;17(6):589-99. Epub 2013 May 24.

Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, via dei Giacinti, 2, 56128 Calambrone, Pisa, Italy. Electronic address:

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November 2013

Elements of morphology: general terms for congenital anomalies.

Authors:
Raoul C Hennekam Leslie G Biesecker Judith E Allanson Judith G Hall John M Opitz I Karen Temple John C Carey

Am J Med Genet A 2013 Nov 3;161A(11):2726-33. Epub 2013 Oct 3.

Departments of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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November 2013

Editor's forward to special articles: elements of morphology.

Authors:
John C Carey

Am J Med Genet A 2013 Nov 10;161A(11):2710. Epub 2013 Oct 10.

Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah.

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November 2013

Narrative medicine: a call to pens.

Authors:
Małgorzata J M Nowaczyk John C Carey

Am J Med Genet A 2013 Sep 29;161A(9):2117-8. Epub 2013 Jul 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

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September 2013

Elements of morphology: standard terminology for the external genitalia.

Authors:
Raoul C M Hennekam Judith E Allanson Leslie G Biesecker John C Carey John M Opitz Eric Vilain

Am J Med Genet A 2013 Jun 6;161A(6):1238-63. Epub 2013 May 6.

Department of Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4440541PMC
June 2013

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Authors:
William S Oetting Peter N Robinson Marc S Greenblatt Richard G Cotton Tim Beck John C Carey Sandra C Doelken Marta Girdea Tudor Groza Carol M Hamilton Ada Hamosh Berit Kerner Jacqueline A L MacArthur Donna R Maglott Barend Mons Heidi L Rehm Paul N Schofield Beverly A Searle Damian Smedley Cynthia L Smith Inge Thomsen Bernstein Andreas Zankl Eric Y Zhao

Hum Mutat 2013 Apr;34(4):661-6

Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, USA.

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April 2013

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Authors:
Anita E Beck Margaret J McMillin Heidi I S Gildersleeve Phillip R Kezele Kathryn M Shively John C Carey Michael Regnier Michael J Bamshad

Am J Med Genet A 2013 Mar 7;161A(3):550-5. Epub 2013 Feb 7.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581718PMC
March 2013

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Authors:
Talia M Muram David A Stevenson Sarah Watts-Justice David H Viskochil John C Carey Rong Mao Brian Jackson

Am J Med Genet A 2013 Mar 7;161A(3):467-72. Epub 2013 Feb 7.

Department of Pathology, University of Utah, Utah, USA.

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March 2013

Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance.

Authors:
John C Carey

Curr Opin Pediatr 2012 Dec;24(6):672-8

Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Utah 84108, USA.

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December 2012

Seizure characteristics in Pallister-Killian syndrome.

Authors:
Meghan S Candee John C Carey Ian D Krantz Francis M Filloux

Am J Med Genet A 2012 Dec 20;158A(12):3026-32. Epub 2012 Nov 20.

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35567
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December 2012

Communication ability in persons with trisomy 18 and trisomy 13.

Authors:
Barbara Braddock Jena McDaniel Sara Spragge Filip Loncke Stephen R Braddock John C Carey

Augment Altern Commun 2012 Dec;28(4):266-77

Department of Pediatrics, Saint Louis University, USA.

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December 2012

The trisomy 18 syndrome.

Authors:
Anna Cereda John C Carey

Orphanet J Rare Dis 2012 Oct 23;7:81. Epub 2012 Oct 23.

Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Universita Milano Bicocca, Fondazione MBBM A.O, S, Gerardo Monza, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824PMC
October 2012

Peripheral muscle weakness in RASopathies.

Authors:
David A Stevenson Shawn Allen William E Tidyman John C Carey David H Viskochil Austin Stevens Heather Hanson Xiaoming Sheng Brandi A Thompson Megumi J Okumura Kent Reinker Barbara Johnson Katherine A Rauen

Muscle Nerve 2012 Sep;46(3):394-9

University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA.

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September 2012

Breaking difficult news in a cross-cultural setting: a qualitative study about Latina mothers of children with down syndrome.

Authors:
Kayla M Sheets Bonnie J Baty Juan Carlos Vázquez John C Carey Wendy L Hobson

J Genet Couns 2012 Aug 7;21(4):582-90. Epub 2011 Dec 7.

South Florida Perinatal Medicine, Miami, FL 33175, USA.

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August 2012

Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions.

Authors:
John C Carey Judith E Allanson Raoul C M Hennekam Leslie G Biesecker

Hum Mutat 2012 May 13;33(5):781-6. Epub 2012 Apr 13.

1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

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May 2012

Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome.

Authors:
Francis M Filloux John C Carey Ian D Krantz Jeffrey J Ekstrand Meghan S Candee

Eur J Med Genet 2012 May 1;55(5):367-73. Epub 2012 Feb 1.

Division of Pediatric Neurology, University of Utah School of Medicine and Primary Children's Medical Center, 100 N. Mario Capecchi Drive, Salt Lake City, UT 84113, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556791PMC
May 2012

Analysis of skeletal dysplasias in the Utah population.

Authors:
David A Stevenson John C Carey Janice L B Byrne Sivithee Srisukhumbowornchai Marcia L Feldkamp

Am J Med Genet A 2012 May 27;158A(5):1046-54. Epub 2012 Mar 27.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/ajmg.a.35327DOI Listing
May 2012

Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1.

Authors:
Barbara A Johnson Bruce Macwilliams John C Carey David H Viskochil Jacques L D'Astous David A Stevenson

Hum Mov Sci 2012 Feb 8;31(1):247-54. Epub 2011 Sep 8.

Shriners Hospitals for Children Salt Lake City, Salt Lake City, UT 84103, USA.

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http://dx.doi.org/10.1016/j.humov.2011.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243780PMC
February 2012

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Authors:
Peter Hammond Femke Hannes Michael Suttie Koen Devriendt Joris Robert Vermeesch Francesca Faravelli Francesca Forzano Susan Parekh Steve Williams Dominic McMullan Sarah T South John C Carey Oliver Quarrell

Eur J Hum Genet 2012 Jan 27;20(1):33-40. Epub 2011 Jul 27.

Molecular Medicine Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2011.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234504PMC
January 2012

Abbreviations and terminology surrounding autism spectrum disorders and intellectual disability.

Authors:
John C Carey

Am J Med Genet A 2011 Dec 3;155A(12):2905. Epub 2011 Oct 3.

American Journal of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.34319DOI Listing
December 2011

Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.

Authors:
Marcia L Feldkamp Lorenzo D Botto Emmanuelle Amar Marian K Bakker Eva Bermejo-Sánchez Sebastiano Bianca Mark A Canfield Eduardo E Castilla Maurizio Clementi Melinda Csaky-Szunyogh Emanuele Leoncini Zhu Li R Brian Lowry Pierpaolo Mastroiacovo Paul Merlob Margery Morgan Osvaldo M Mutchinick Anke Rissmann Annukka Ritvanen Csaba Siffel John C Carey

Am J Med Genet C Semin Med Genet 2011 Nov 14;157C(4):333-43. Epub 2011 Oct 14.

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

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http://dx.doi.org/10.1002/ajmg.c.30317DOI Listing
November 2011

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.

Authors:
Lorenzo D Botto Marcia L Feldkamp Emmanuelle Amar John C Carey Eduardo E Castilla Maurizio Clementi Guido Cocchi Hermien E K de Walle Jane Halliday Emanuele Leoncini Zhu Li R Brian Lowry Lisa K Marengo María-Luisa Martínez-Frías Paul Merlob Margery Morgan Leonora Luna Muñoz Anke Rissmann Annukka Ritvanen Gioacchino Scarano Pierpaolo Mastroiacovo

Am J Med Genet C Semin Med Genet 2011 Nov 14;157C(4):262-73. Epub 2011 Oct 14.

Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, USA.

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http://dx.doi.org/10.1002/ajmg.c.30318DOI Listing
November 2011

Is gastroschisis truly a sporadic defect?: familial cases of gastroschisis in Utah, 1997 to 2008.

Authors:
Marcia L Feldkamp John C Carey Richard Pimentel Sergey Krikov Lorenzo D Botto

Birth Defects Res A Clin Mol Teratol 2011 Oct 24;91(10):873-8. Epub 2011 Aug 24.

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

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http://dx.doi.org/10.1002/bdra.22844DOI Listing
October 2011

The clinical delineation of malformation syndromes: historical prospective and future direction.

Authors:
John C Carey

Am J Med Genet A 2011 Sep 3;155A(9):2066-8. Epub 2011 Aug 3.

Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/ajmg.a.34193DOI Listing
September 2011

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Authors:
Karen W Gripp Deborah L Stabley Peter L Geller Elizabeth Hopkins David A Stevenson John C Carey Katia Sol-Church

Am J Med Genet A 2011 Sep 10;155A(9):2263-8. Epub 2011 Aug 10.

Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.34150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158836PMC
September 2011

The importance of dysmorphology in the identification of new human teratogens.

Authors:
Kenneth Lyons Jones John C Carey

Am J Med Genet C Semin Med Genet 2011 Aug 15;157C(3):188-94. Epub 2011 Jul 15.

Department of Pediatrics, School of Medicine, University of California-San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0828, USA.

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http://dx.doi.org/10.1002/ajmg.c.30311DOI Listing
August 2011

Academy of pediatric education and leadership: preparing leaders for educational innovation.

Authors:
Wendy L Hobson John C Carey James F Bale

Pediatrics 2011 Jul 6;128(1):1-4. Epub 2011 Jun 6.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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July 2011

Pediatric 25-hydroxyvitamin D concentrations in neurofibromatosis type 1.

Authors:
David A Stevenson David H Viskochil John C Carey Xiaoming Sheng Mary Murray Laurie Moyer-Mileur Judd Shelton William L Roberts Ashley M Bunker Heather Hanson Stephanie Bauer Jacques L D'Astous

J Pediatr Endocrinol Metab 2011 ;24(3-4):169-74

Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1515/jpem.2011.092DOI Listing
July 2011

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Authors:
Alan F Rope Kai Wang Rune Evjenth Jinchuan Xing Jennifer J Johnston Jeffrey J Swensen W Evan Johnson Barry Moore Chad D Huff Lynne M Bird John C Carey John M Opitz Cathy A Stevens Tao Jiang Christa Schank Heidi Deborah Fain Reid Robison Brian Dalley Steven Chin Sarah T South Theodore J Pysher Lynn B Jorde Hakon Hakonarson Johan R Lillehaug Leslie G Biesecker Mark Yandell Thomas Arnesen Gholson J Lyon

Am J Hum Genet 2011 Jul 23;89(1):28-43. Epub 2011 Jun 23.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135802PMC
July 2011

Multiple increased osteoclast functions in individuals with neurofibromatosis type 1.

Authors:
David A Stevenson Jincheng Yan Yongzheng He Huijie Li Yaling Liu Qi Zhang Yongmin Jing Zhiping Guo Wei Zhang Dalong Yang Xiaohua Wu Heather Hanson Xiaohong Li Karl Staser David H Viskochil John C Carey Shi Chen Lucy Miller Kent Roberson Laurie Moyer-Mileur Menggang Yu Elisabeth L Schwarz Marzia Pasquali Feng-Chun Yang

Am J Med Genet A 2011 May 4;155A(5):1050-9. Epub 2011 Apr 4.

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

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http://dx.doi.org/10.1002/ajmg.a.33965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080465PMC
May 2011

Implementing the elements of morphology in the American Journal of Medical Genetics.

Authors:
Leslie G Biesecker John C Carey

Am J Med Genet A 2011 May 7;155A(5):969-71. Epub 2011 Apr 7.

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http://dx.doi.org/10.1002/ajmg.a.33772DOI Listing
May 2011

Clinical utility gene card for: Wolf-Hirschhorn (4p-) syndrome.

Authors:
Agatino Battaglia Sarah South John C Carey

Eur J Hum Genet 2011 Apr 8;19(4). Epub 2010 Dec 8.

Department of Developmental Neurosciences, Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Calambrone (Pisa), Italy.

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http://dx.doi.org/10.1038/ejhg.2010.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060313PMC
April 2011

Motor proficiency in children with neurofibromatosis type 1.

Authors:
Barbara A Johnson Bruce A MacWilliams John C Carey David H Viskochil Jacques L D'Astous David A Stevenson

Pediatr Phys Ther 2010 ;22(4):344-8

Shriners Hospitals for Children Salt Lake City, Salt Lake City, Utah, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235042PMC
March 2011

Oral clefts and maternal biomarkers of folate-dependent one-carbon metabolism in Utah.

Authors:
Ronald G Munger Tsunenobu Tamura Kelley E Johnston Marcia L Feldkamp Roxane Pfister Richard Cutler Maureen A Murtaugh John C Carey

Birth Defects Res A Clin Mol Teratol 2011 Mar 2;91(3):153-61. Epub 2011 Feb 2.

Department of Nutrition, Dietetics, and Food Sciences, Center for Epidemiologic Studies, Utah State University, Logan, UT 84322, USA.

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http://dx.doi.org/10.1002/bdra.20762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703080PMC
March 2011

Introduction to growth and development in craniofacial anomalies symposium and society of craniofacial genetics abstracts.

Authors:
John C Carey

Am J Med Genet A 2011 Feb;155A(2):269

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http://dx.doi.org/10.1002/ajmg.a.33853DOI Listing
February 2011

Why is the construction: Hypoplastic left heart "syndrome" a misnomer? And: What is a syndrome, anyhow?

Authors:
John M Opitz John C Carey

Am J Med Genet A 2011 Feb 13;155A(2):360-2. Epub 2011 Jan 13.

Department of Pediatrics (Medical Genetics), School of Medicine, University of Utah, Salt Lake City, Utah, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33836
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February 2011

The importance of case reports in advancing scientific knowledge of rare diseases.

Authors:
John C Carey

Adv Exp Med Biol 2010 ;686:77-86

Department of Pediatrics, The University of Utah, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1007/978-90-481-9485-8_5DOI Listing
December 2010

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Authors:
Larissa V Furtado Pinar Bayrak-Toydemir Becki Hulinsky Kristy Damjanovich John C Carey Alan F Rope

Am J Med Genet A 2010 Nov;152A(11):2838-44

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33674
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November 2010

Mixoploidy: perinatal diagnosis and pregnancy outcome.

Authors:
Ashwin R Jadhav Gary A Dildy Michael A Belfort Yves Lacassie John C Carey

Am J Perinatol 2010 Sep 16;27(8):599-602. Epub 2010 Mar 16.

Division of Maternal Fetal Medicine, New York University Medical Center, New York, NY 11366, USA.

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http://dx.doi.org/10.1055/s-0030-1249361DOI Listing
September 2010

Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues.

Authors:
John C Carey

Am J Med Genet A 2010 Apr;152A(4):819-20

Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, American Journal of Medical Genetics Office, Salt Lake City, Utah 84108, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33324
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April 2010

Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.

Authors:
Attila Kumánovics Carl T Wittwer Robert J Pryor Nancy H Augustine Mark F Leppert John C Carey Hans D Ochs Ralph J Wedgwood Ralph J Faville Paul G Quie Harry R Hill

J Mol Diagn 2010 Mar 21;12(2):213-9. Epub 2010 Jan 21.

Department of Pathology, Human Genetics, University of Utah School of Medicine and the Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.090080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871728PMC
March 2010

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Authors:
Katherine A Rauen Lisa Schoyer Frank McCormick Angela E Lin Judith E Allanson David A Stevenson Karen W Gripp Giovanni Neri John C Carey Eric Legius Marco Tartaglia Suzanne Schubbert Amy E Roberts Bruce D Gelb Kevin Shannon David H Gutmann Martin McMahon Carmen Guerra James A Fagin Benjamin Yu Yoko Aoki Benjamin G Neel Allan Balmain Richard R Drake Garry P Nolan Martin Zenker Gideon Bollag Judith Sebolt-Leopold Jackson B Gibbs Alcino J Silva E Elizabeth Patton David H Viskochil Mark W Kieran Bruce R Korf Randi J Hagerman Roger J Packer Teri Melese

Am J Med Genet A 2010 Jan;152A(1):4-24

University of California San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.33183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051786PMC
January 2010

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.

Authors:
Florent Elefteriou Mateusz Kolanczyk Aaron Schindeler David H Viskochil Janet M Hock Elizabeth K Schorry Alvin H Crawford Jan M Friedman David Little Juha Peltonen John C Carey David Feldman Xijie Yu Linlea Armstrong Patricia Birch David L Kendler Stefan Mundlos Feng-Chun Yang Gina Agiostratidou Kim Hunter-Schaedle David A Stevenson

Am J Med Genet A 2009 Oct;149A(10):2327-38

Department of Medicine, Vanderbilt Center for Bone Biology, Vanderbilt University Medical Center, Nashville, Tennessee 37232-0575, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33045
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October 2009