StephenBraddockMD

Medical Genetics • Saint Louis, MO

Clinical Genetics, Pediatric Medical Genetics

Director of Medical Genetics Professor of Pediatrics

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Office
1465 S Grand Blvd
Saint Louis, MO 63104
Phone+1 314-577-5639

Fax+1 314-268-4112
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Education & Training

University of California (San Diego) Medical CenterFellowship, Clinical Genetics and Dysmorphology, 1992 - 1994
Cedars-Sinai Medical CenterFellowship, Medical Genetics and Genomics, 1991 - 1992
University of Utah HealthResidency, Pediatrics, 1988 - 1991
University of Missouri-Columbia School of MedicineClass of 1988

Certifications & Licensure

MO State Medical License 1994 - 2025
CA State Medical License 1991 - 2023
IL State Medical License 2010 - 2023
VA State Medical License 2006 - 2012
UT State Medical License 1989 - 1992
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

3 citations
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula, Allen Y Chen, Jennifer E Neil, Diane D Shao, Alisa Mo, Norma K Hylton, Stephanie DiTroia, Vijay S Ganesh, Richard S Smith, Katherine O'Kane, Rebecca C Y...> ;JAMA Neurology. 2023 Sep 1
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Anne Guimier, Loïc de Pontual, Stephen R Braddock, Erin Torti, Luis A Pérez-Jurado, Patricia Muñoz-Cabello, Montserrat Arumí, Kristin G Monaghan, Hane Lee, Lee-Kai Wan...> ;Human Molecular Genetics. 2023 Jan 13
8 citations
Birth outcomes in women who have taken hydroxycholoroquine in pregnancy: a prospective cohort study.
Christina D. Chambers, Diana Johnson, Ronghui Xu, Yunjun Luo, Robert J. Felix, Minh Fine, Chloe Lessard, Margaret P. Adam, Stephen R. Braddock, Luther K. Robinson, Lea...> ;Arthritis & Rheumatology. 2021 Nov 1
16 citations
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, ...> ;Genetics in Medicine. 2021 Aug 3
4 citations
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.
Timothy D. Gauntner, Manasa Karumuri, Miguel A. Guzman, Sara E Starnes, Sherri Besmer, Hailey Pinz, Stephen R. Braddock, Teresa Andreone> ;Clinical Case Reports. 2021 Feb 4
12 citations
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Barbara K Burton, Joel Charrow, George E Hoganson, Julie Fleischer, Dorothy K Grange, Stephen R Braddock, Lauren Hitchins, Rachel Hickey, Katherine M Christensen, Dani...> ;International Journal of Neonatal Screening. 2020 Mar 1
Author Correction: Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
Tyler B. Johnson, Keegan Mechels, Ruthellen H. Anderson, Jacob T. Cain, David A. Sturdevant, Stephen R. Braddock, Hailey Pinz, Mark A. Wilson, Megan Landsverk, Kyle J....> ;Scientific Reports. 2020 Apr 15
5 citations
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease
Raymond Y. Wang, Kyle Rudser, Donald R. Dengel, Nicholas G. Evanoff, Julia Steinberger, Nina Movsesyan, Robert Garrett, Katherine M. Christensen, Deborah Boylan, Steph...> ;Orphanet Journal of Rare Diseases. 2020 Mar 17
4 citations
Further delineation of METTL23-associated intellectual disability.
Mohammed Almannai, Osama A. Obaid, Eissa Faqeih, Ali Alasmari, Manar Samman, Hailey Pinz, Stephen R. Braddock, Fowzan S. Alkuraya> ;American Journal of Medical Genetics. Part A. 2020 Feb 18
106 citations
Health Care Supervision for Children With Williams Syndrome.
Colleen A. Morris, Stephen R. Braddock> ;Pediatrics. 2020 Feb 1
22 citations
Rare SUZ12 variants commonly cause an overgrowth phenotype
Sharri Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, KS Yeung, Brian H.Y. Chung, HM Luk, Nataliya Tkachenko, Sanaa Choufani, Rosanna Weksberg, E. Lopez-Rangel...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2019 Nov 17
13 citations
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience
Barbara K. Burton, George E. Hoganson, Julie Fleischer, Dorothy K. Grange, Stephen R. Braddock, Rachel Hickey, Lauren Hitchins, Daniel Groepper, Katherine M. Christens...> ;The Journal of Pediatrics. 2019 Nov 1
32 citations
Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.
Christina D. Chambers, Diana Johnson, Ronghui Xu, Yunjun Luo, Janina Lopez-Jimenez, Margaret P. Adam, Stephen R. Braddock, Luther K. Robinson, Keith K. Vaux, Kenneth L...> ;Plos One. 2019 Oct 18
8 citations
Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The A...
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51 citations
Redefining the Etiologic Landscape of Cerebellar Malformations.
Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda M. Mirzaa, James T. Bennett, Alexander B. Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Part...> ;American Journal of Human Genetics. 2019 Sep 5
17 citations
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Oguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R Braddock, Anne M Slavotinek, Julie S Cohen, Cynthia S Gubbels, Kimberly A Aldinger, Judy William...> ;American Journal of Human Genetics. 2019 Aug 1
26 citations
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Ellen Macnamara, Alanna E. Koehler, Precilla D'Souza, Tyra Estwick, Paul R. Lee, Gilbert Vezina, Harper B Fauni, Stephen R. Braddock, Erin Torti, James Holt, Prashant ...> ;Human Mutation. 2019 Mar 12
9 citations
Solid tumor screening recommendations in trisomy 18
Shannon G. Farmakis, Ann M. Barnes, John C. Carey, Stephen R. Braddock> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
1 citations
Retinoic acid receptor beta variant-related colonic hypoganglionosis.
Katharine J. Foster, Stephanie Q. Zhang, Stephen R. Braddock, Erin Torti, Rashmi Chikarmane, Cirilo Sotelo-Avila, Jose Greenspon> ;American Journal of Medical Genetics. Part A. 2019 May 1
Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results.
Jason K. Lam, Stephen R. Braddock, Charles B. Huddleston, Alan P. Knutsen> ;Annals of Allergy, Asthma & Immunology. 2019 Feb 1
5 citations
Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
Tyler B. Johnson, Keegan Mechels, Ruthellen H. Anderson, Jacob T. Cain, David A. Sturdevant, Stephen R. Braddock, Hailey Pinz, Mark A. Wilson, Megan Landsverk, Kyle J....> ;Scientific Reports. 2018 Nov 1
46 citations
Cohen Syndrome: Review of the Literature.
Jonathan M. Rodrigues, Hermina D Fernandes, Carrie Caruthers, Stephen R. Braddock, Alan P. Knutsen> ;Cureus. 2018 Sep 18
38 citations
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara M. Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, El...> ;American Journal of Medical Genetics. Part A. 2018 Feb 15
121 citations
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Barbara K. Burton, Joel Charrow, George E. Hoganson, Darrell J. Waggoner, Brad T. Tinkle, Stephen R. Braddock, Michael Schneider, Dorothy K. Grange, Claudia Nash, Heat...> ;The Journal of Pediatrics. 2017 Nov 1
5 citations
Discordant Aortic Valve Morphology in Monozygotic Twins: A Clinical Case Series.
Dawn S. Hui, Robert O. Bonow, Joshua M. Stolker, Stephen R. Braddock, Richard T. Lee> ;JAMA Cardiology. 2016 Dec 1
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