Stephen R Braddock

Stephen R Braddock

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Stephen R Braddock

Stephen R Braddock

Publications by authors named "Stephen R Braddock"

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Retinoic acid receptor beta variant-related colonic hypoganglionosis.

Am J Med Genet A 2019 May 20;179(5):817-821. Epub 2019 Feb 20.

Department of Surgery, Division of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.61078DOI Listing
May 2019

Solid tumor screening recommendations in trisomy 18.

Am J Med Genet A 2019 Mar 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

Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results.

Ann Allergy Asthma Immunol 2019 Feb 27;122(2):222-223. Epub 2018 Oct 27.

Departments of Pediatrics, Saint Louis University, St Louis, Missouri; Division of Allergy & Immunology, Saint Louis University, St Louis, Missouri. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10811206183135
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http://dx.doi.org/10.1016/j.anai.2018.10.020DOI Listing
February 2019

Cohen Syndrome: Review of the Literature.

Cureus 2018 Sep 18;10(9):e3330. Epub 2018 Sep 18.

Pediatrics, Saint Louis University School of Medicine, Saint Louis, USA.

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http://dx.doi.org/10.7759/cureus.3330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6248805PMC
September 2018

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

J Pediatr 2017 11 17;190:130-135. Epub 2017 Jul 17.

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.

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http://dx.doi.org/10.1016/j.jpeds.2017.06.048DOI Listing
November 2017

Discordant Aortic Valve Morphology in Monozygotic Twins: A Clinical Case Series.

JAMA Cardiol 2016 Dec;1(9):1043-1047

Center for Comprehensive Cardiovascular Care, Saint Louis University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamacardio.2016.2522DOI Listing
December 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

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

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI 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

Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.

Am J Med Genet A 2014 Feb 5;164A(2):535-41. Epub 2013 Dec 5.

Division of Molecular Cytogenetics Laboratory, Saint Louis University Medical Center, St. Louis, Missouri; Department of Pediatrics, Saint Louis University Medical Center, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36305DOI Listing
February 2014

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

Am J Med Genet A 2013 Aug;161A(8):1992-8

Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35918DOI Listing
August 2013

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

Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome.

Am J Med Genet A 2010 Jul;152A(7):1718-23

Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908-0386, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33468
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http://dx.doi.org/10.1002/ajmg.a.33468DOI Listing
July 2010

An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.

Am J Med Genet A 2009 Feb;149A(4):698-701

Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia 22908-0386, USA.

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http://dx.doi.org/10.1002/ajmg.a.32687DOI Listing
February 2009

Development and validation of a measure of dysmorphology: useful for autism subgroup classification.

Am J Med Genet A 2008 May;146A(9):1101-16

Department of Child Health, Thompson Center for Autism and Neurodevelopmental Disorders, Columbia, Missouri 65211, USA.

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http://dx.doi.org/10.1002/ajmg.a.32244DOI Listing
May 2008

The face of Joubert syndrome: a study of dysmorphology and anthropometry.

Am J Med Genet A 2007 Dec;143A(24):3235-42

University of Virginia-Pediatrics, Charlottesville, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.32099DOI Listing
December 2007

Retinal hemorrhages in an 8-year-old child: an uncommon presentation of abusive injury.

Pediatr Emerg Care 2004 Feb;20(2):118-20

Department of Child Health, University of Missouri-Columbia, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1097/01.pec.0000113883.10140.c2DOI Listing
February 2004

A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency.

Am J Med Genet A 2003 Nov;123A(1):95-9

Division of Medical Genetics, Metabolism and Dysmorphology, Department of Child Health, University of Missouri School of Medicine, Columbia, Missouri 65212, USA.

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http://dx.doi.org/10.1002/ajmg.a.20497DOI Listing
November 2003

Perioperative care of the child with the Johanson-Blizzard syndrome.

Paediatr Anaesth 2003 Jan;13(1):72-5

Department of Child Health, The University of Missouri, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1046/j.1460-9592.2003.00957.xDOI Listing
January 2003

Anaesthetic implications of Nager syndrome.

Paediatr Anaesth 2002 May;12(4):365-8

Department of Child Health and Anesthesiology, The University of Missouri, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1046/j.1460-9592.2002.00876.xDOI Listing
May 2002

Bony orbital distances among the Filipino population.

J Craniofac Surg 2002 Mar;13(2):258-61

University of Missouri-Columbia, Division of Plastic Surger, Department of Child Health, One Hospital Drive, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1097/00001665-200203000-00013DOI Listing
March 2002