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Profile

Stephanie Wechsler Doctor

  • Department of Pediatrics
    Professor
  • (404) 256-2593
  • stephanie.burns.wechsler@emory.edu
  • 1365 Clifton Rd NE
    Building A, Suite 1500
    Atlanta, GA 30322
  • Children's Healthcare of Atlanta Cardiology
    Cardiology
    2835 Brandywine Road, Suite 400
Head shot of Stephanie Wechsler

Overview

Dr. Wechsler is board certified in medical genetics and pediatric cardiology. She received her medical school training at the University of Texas Medical School at Houston and completed a pediatric residency through Johns Hopkins Hospital in Baltimore, MD. She completed a fellowship in cardiology through Childrens Hospital/Harvard Medical School, and a fellowship in medical genetics through the University of Michigan Health System, Ann Arbor, MI.

She has been in Academic Medicine for 25 years involved in clinical practice, medical education as well as clinical research. She has worked with genetic counselors in several of her academic appointments, including in her current position with the Emory Division of Medical Genetics.

Dr. Wechsler is the primary instructor for HGC 745a & b, Medical Genetics I & II.

Academic Appointment

  • Professor, Pediatrics and Medical Genetics, Emory University School of Medicine

Education

Degrees

  • MD from University of Texas Health Science Center at Houston
  • BS from Baylor University

Research

Publications

  • Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease.
    J Am Heart Assoc Volume: 14 Page(s): e039177
    03/18/2025 Authors: Penaloza JS; Moreland B; Gaither JB; Landis BJ; Ware SM; McBride KL; White P; CCVM Consortium
  • Genome-wide association studies of Down syndrome associated congenital heart defects.

    09/06/2024 Authors: Feldman ER; Li Y; Cutler DJ; Rosser TC; Wechsler SB; Sanclemente L; Rachubinski AL; Elliott N; Vyas P; Roberts I
  • De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
    Am J Med Genet A Volume: 194 Page(s): e63559
    07/01/2024 Authors: Ha T; Morgan A; Bartos MN; Beatty K; Cogn B; Braun D; Gerber CB; Gaspar H; Kopps AM; Rieubland C
  • A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
    J Am Heart Assoc Volume: 12 Page(s): e029340
    09/19/2023 Authors: Landis BJ; Helvaty LR; Geddes GC; Lin J-HI; Yatsenko SA; Lo CW; Border WL; Wechsler SB; Murali CN; Azamian MS
  • A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.
    Genet Med Open Volume: 1 Page(s): 100814
    01/01/2023 Authors: Durbin MD; Helvaty LR; Li M; Border W; Fitzgerald-Butt S; Garg V; Geddes GC; Helm BM; Lalani SR; McBride KL
  • Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D-2-hydroxyglutaric aciduria type I.
    Am J Med Genet A Volume: 188 Page(s): 2707 - 2711
    09/01/2022 Authors: Murphey K; George PE; Pencheva B; Porter CC; Wechsler SB; Gambello MJ; Li H
  • Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
    Am J Hum Genet Volume: 109 Page(s): 601 - 617
    04/07/2022 Authors: Stephenson SEM; Costain G; Blok LER; Silk MA; Nguyen TB; Dong X; Alhuzaimi DE; Dowling JJ; Walker S; Amburgey K
  • Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy.
    J Comp Eff Res Volume: 10 Page(s): 1337 - 1347
    12/01/2021 Authors: Shieh PB; Elfring G; Trifillis P; Santos C; Peltz SW; Parsons JA; Apkon S; Darras BT; Campbell C; McDonald CM
  • Thirty-Year Survival after Cardiac Surgery for Patients with Turner Syndrome.
    J Pediatr Volume: 239 Page(s): 187 - 192.e1
    12/01/2021 Authors: Alam S; Claxton JS; Mortillo M; Sassis L; Kefala-Karli P; Silberbach M; Kochilas L; Wechsler SB
  • Like mother, like daughter: A case report of multiple family members affected by Pompe disease
    Volume: 126 Page(s): S94 - S95
    02/01/2019 Authors: Long V; Foley A; Wechsler S
  • Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.
    J Pediatr Volume: 204 Page(s): 250 - 255.e1
    01/01/2019 Authors: Handisides JC; Hollenbeck-Pringle D; Uzark K; Trachtenberg FL; Pemberton VL; Atz TW; Bradley TJ; Cappella E; De Nobele S; Groh GK-T
  • Frequency of Ventricular Arrhythmias and Other Rhythm Abnormalities in Children and Young Adults With the Marfan Syndrome.
    Am J Cardiol Volume: 122 Page(s): 1429 - 1436
    10/15/2018 Authors: Mah DY; Sleeper LA; Crosson JE; Czosek RJ; Love BA; McCrindle BW; Muio-Mosquera L; Olson AK; Pilcher TA; Tierney ESS
  • Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.
    Pediatr Cardiol Volume: 39 Page(s): 1453 - 1461
    10/01/2018 Authors: Hoskoppal A; Menon S; Trachtenberg F; Burns KM; De Backer J; Gelb BD; Gleason M; James J; Lai WW; Liou A
  • Adrenergic receptor genotypes influence postoperative outcomes in infants in the Single-Ventricle Reconstruction Trial.
    J Thorac Cardiovasc Surg Volume: 154 Page(s): 1703 - 1710.e3
    11/01/2017 Authors: Ramroop R; Manase G; Lu D; Manase D; Chen S; Kim R; Lee T; Mahle WT; McHugh K; Mitchell M
  • PRKAG2 mutations presenting in infancy.
    J Inherit Metab Dis Volume: 40 Page(s): 823 - 830
    11/01/2017 Authors: Torok RD; Austin SL; Phornphutkul C; Rotondo KM; Bali D; Tatum GH; Wechsler SB; Buckley AF; Kishnani PS
  • Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
    Am J Med Genet A Volume: 173 Page(s): 1219 - 1225
    05/01/2017 Authors: Louie RJ; Tan QK-G; Gilner JB; Rogers RC; Younge N; Wechsler SB; McDonald MT; Gordon B; Saski CA; Jones JR
  • PRKAG2 as a mimicker of Pompe disease
    Volume: 120 Page(s): S23 - S23
    01/01/2017 Authors: Austin SL; Torok RD; Phornphutkul C; Rotondo K; Buckley AF; Tatum GH; Wechsler SB; Kishnani PS
  • Complex Chronic Conditions Among Children Undergoing Cardiac Surgery.
    Pediatr Cardiol Volume: 37 Page(s): 1046 - 1056
    08/01/2016 Authors: Chan T; Di Gennaro J; Wechsler SB; Bratton SL
  • Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
    Neurogenetics Volume: 17 Page(s): 159 - 164
    07/01/2016 Authors: Steinfeld H; Cho MT; Retterer K; Person R; Schaefer GB; Danylchuk N; Malik S; Wechsler SB; Wheeler PG; van Gassen KLI
  • Adult surgical experience with Loeys-Dietz syndrome.
    Ann Thorac Surg Volume: 99 Page(s): 1275 - 1281
    04/01/2015 Authors: Williams JA; Hanna JM; Shah AA; Andersen ND; McDonald MT; Jiang Y-H; Wechsler SB; Zomorodi A; McCann RL; Hughes GC
  • Randomized Trial of Atenolol Versus Losartan in Children and Young Adults With Marfan Syndrome
    Volume: 130 Page(s): 2109 - 2109
    12/02/2014 Authors: Lacro RV; Dietz HC; Sleeper LA; Yetman AT; Bradley TJ; Colan SD; Pearson GD; Tierney ESS; Levine JC; Atz AM
  • Atenolol versus losartan in children and young adults with Marfan's syndrome.
    N Engl J Med Volume: 371 Page(s): 2061 - 2071
    11/27/2014 Authors: Lacro RV; Dietz HC; Sleeper LA; Yetman AT; Bradley TJ; Colan SD; Pearson GD; Selamet Tierney ES; Levine JC; Atz AM
  • Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
    Genet Med Volume: 16 Page(s): e1
    11/01/2014 Authors: Kishnani PS; Austin SL; Abdenur JE; Arn P; Bali DS; Boney A; Chung WK; Dagli AI; Dale D; Koeberl D
  • Ataluren treatment of patients with nonsense mutation dystrophinopathy.
    Muscle Nerve Volume: 50 Page(s): 477 - 487
    10/01/2014 Authors: Bushby K; Finkel R; Wong B; Barohn R; Campbell C; Comi GP; Connolly AM; Day JW; Flanigan KM; Goemans N
  • Factors associated with neurodevelopment for children with single ventricle lesions.
    J Pediatr Volume: 165 Page(s): 490 - 496.e8
    09/01/2014 Authors: Goldberg CS; Lu M; Sleeper LA; Mahle WT; Gaynor JW; Williams IA; Mussatto KA; Ohye RG; Graham EM; Frank DU
  • Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.
    Am Heart J Volume: 165 Page(s): 828 - 835.e3
    05/01/2013 Authors: Lacro RV; Guey LT; Dietz HC; Pearson GD; Yetman AT; Gelb BD; Loeys BL; Benson DW; Bradley TJ; De Backer J
  • Factors Associated with Impaired Neurodevelopment at 3 Years of Age in Children with Single Right Ventricle Lesions
    CIRCULATION Volume: 126
    11/20/2012 Authors: Goldberg CS; Lu M; Mahle WT; Gaynor JW; Williams I; Mussatto KA; Ohye RG; Frank D; Graham EM; Jacobs JP
  • CARDIAC PATHOLOGY AND CLINICAL FINDINGS COMPARISON IN PATIENTS AND DOGS WITH GLYCOGEN STORAGE DISEASE TYPE III
    Volume: 35 Page(s): S81 - S81
    09/01/2012 Authors: Austin SL; Proia AD; Kanter R; Drake E; Sun B; Wechsler SB; Kishnani PS
  • Cardiac Pathology in Glycogen Storage Disease Type III.
    Volume: 6 Page(s): 65 - 72
    01/01/2012 Authors: Austin SL; Proia AD; Spencer-Manzon MJ; Butany J; Wechsler SB; Kishnani PS
  • Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.
    Genet Med Volume: 12 Page(s): 413 - 423
    07/01/2010 Authors: Vertilus SM; Austin SL; Foster KS; Boyette KE; Bali DS; Li JS; Kishnani PS; Wechsler SB
  • Glycogen storage disease type III diagnosis and management guidelines.
    Genet Med Volume: 12 Page(s): 446 - 463
    07/01/2010 Authors: Kishnani PS; Austin SL; Arn P; Bali DS; Boney A; Case LE; Chung WK; Desai DM; El-Gharbawy A; Haller R
  • Two-stage total aortic replacement for Loeys-Dietz syndrome.
    J Card Surg Volume: 25 Page(s): 223 - 224
    03/01/2010 Authors: Williams ML; Wechsler SB; Hughes GC
  • Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm.
    J Vasc Surg Volume: 51 Page(s): 468 - 470
    02/01/2010 Authors: Andersen ND; Dubose J; Shah A; Lee T; Wechsler SB; Hughes GC
  • Hemolytic anemia secondary to modified blalock-taussig shunt.
    Pediatr Cardiol Volume: 28 Page(s): 238 - 240
    01/01/2007 Authors: Ryerson LM; Wechsler SB; Ohye RG
  • Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
    Pediatr Cardiol Volume: 26 Page(s): 632 - 637
    01/01/2005 Authors: Spencer CT; Byrne BJ; Gewitz MH; Wechsler SB; Kao AC; Gerstenfeld EP; Merliss AD; Carboni MP; Bryant RM
  • Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.
    Clin Dysmorphol Volume: 13 Page(s): 63 - 69
    04/01/2004 Authors: Wechsler SB; Lehoczky JA; Hall JG; Innis JW
  • Myocardial immediate early gene activation after cardiopulmonary bypass with cardiac ischemia-reperfusion.
    Ann Thorac Surg Volume: 73 Page(s): 156 - 162
    01/01/2002 Authors: Nelson DP; Wechsler SB; Miura T; Stagg A; Newburger JW; Mayer JE; Neufeld EJ
  • Complex modular cis-acting elements regulate expression of the cardiac specifying homeobox gene Csx/Nkx2.5.
    Development Volume: 126 Page(s): 1439 - 1450
    04/01/1999 Authors: Tanaka M; Wechsler SB; Lee IW; Yamasaki N; Lawitts JA; Izumo S
  • Cis-acting elements regulate expression of the cardiac specific homeobox gene, Csx/Nkx2-5
    Volume: 45 Page(s): 32A - 32A
    04/01/1999 Authors: Tanaka M; Wechsler SB; Lee IW; Yamasaki N; Izumo S
  • Characterization of cis-acting elements of Csx/Nkx2.5 in transgenic mice
    Volume: 98 Page(s): 757 - 757
    10/27/1998 Authors: Tanaka M; Wechsler SB; Lee I; Yamasaki N; Izumo S
  • Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx.
    Mol Med Volume: 2 Page(s): 86 - 96
    01/01/1996 Authors: Turbay D; Wechsler SB; Blanchard KM; Izumo S
  • MOLECULAR-CLONING AND CHARACTERIZATION OF HCSX, A HUMAN CARDIAC SPECIFIC HOMEOBOX GENE
    Volume: 92 Page(s): 551 - 551
    10/15/1995 Authors: TURBAY D; WECHSLER SB; MCQUATEBLANCHARD K; IZUMO S
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