John C Carey

John C Carey

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John C Carey

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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

Solid tumor screening recommendations in trisomy 18.

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

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

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

Testicular Seminoma in a Transgender Woman: A Case Report.

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.

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.

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).

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.

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.

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.

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

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

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.

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

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.

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

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

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.

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.

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.

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.

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.

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

Wilms tumor and trisomy 18: Is there an association?

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.

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.

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.

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.

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

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

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.

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?

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

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

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.

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.

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.

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.

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

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

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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http://doi.wiley.com/10.1002/lary.24752
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http://dx.doi.org/10.1002/lary.24752DOI Listing
November 2014

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

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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http://doi.wiley.com/10.1002/ajmg.a.36509
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http://dx.doi.org/10.1002/ajmg.a.36509DOI Listing
July 2014

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

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://dx.doi.org/10.1038/ejhg.2013.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953918PMC
April 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.

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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https://linkinghub.elsevier.com/retrieve/pii/S10903798130006
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http://dx.doi.org/10.1016/j.ejpn.2013.04.010DOI Listing
November 2013

Elements of morphology: general terms for congenital anomalies.

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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http://doi.wiley.com/10.1002/ajmg.a.36249
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http://dx.doi.org/10.1002/ajmg.a.36249DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.36260DOI Listing
November 2013

Narrative medicine: a call to pens.

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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http://dx.doi.org/10.1002/ajmg.a.36114DOI Listing
September 2013

Elements of morphology: standard terminology for the external genitalia.

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

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

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://doi.wiley.com/10.1002/ajmg.a.35809
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http://dx.doi.org/10.1002/ajmg.a.35809DOI Listing
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.

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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http://dx.doi.org/10.1002/ajmg.a.35718DOI Listing
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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http://dx.doi.org/10.1097/MOP.0b013e3283595031DOI Listing
December 2012

Seizure characteristics in Pallister-Killian syndrome.

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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http://dx.doi.org/10.1002/ajmg.a.35567DOI Listing
December 2012

Communication ability in persons with trisomy 18 and trisomy 13.

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

Department of Pediatrics, Saint Louis University, USA.

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http://dx.doi.org/10.3109/07434618.2012.706637DOI Listing
December 2012

The trisomy 18 syndrome.

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://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-8
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http://dx.doi.org/10.1186/1750-1172-7-81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824PMC
October 2012

Peripheral muscle weakness in RASopathies.

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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http://dx.doi.org/10.1002/mus.23324DOI Listing
September 2012

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

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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http://doi.wiley.com/10.1002/humu.22053
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http://dx.doi.org/10.1002/humu.22053DOI Listing
May 2012

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

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://linkinghub.elsevier.com/retrieve/pii/S176972121200008
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http://dx.doi.org/10.1016/j.ejmg.2012.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556791PMC
May 2012

Analysis of skeletal dysplasias in the Utah population.

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

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

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

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.

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.

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.

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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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-0662DOI Listing
July 2011

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

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.

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

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

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

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

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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http://dx.doi.org/10.1002/ajmg.a.33836DOI Listing
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.

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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http://dx.doi.org/10.1002/ajmg.a.33674DOI Listing
November 2010

Mixoploidy: perinatal diagnosis and pregnancy outcome.

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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http://dx.doi.org/10.1002/ajmg.a.33324DOI Listing
April 2010

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

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