Stephanie E Wallace, MD

Stephanie E Wallace, MD

Clinical Genetics, Genetic Counseling, Skeletal Health Program

On staff since September 2005

Children's Title: Associate Clinical Director, Medical Genetics

Research Center: Center for Clinical and Translational Research

  • Biography

    Stephanie E. Wallace, MD, is attending physician at Seattle Children's Hospital and assistant professor in the Department of Pediatrics at the University of Washington School of Medicine. Dr. Wallace is board certified in Pediatrics and Clinical Genetics.

    Her clinical work is performed primarily through the Medical Genetics Clinic at Childrens. She also sees patients in genetics clinics in Bellingham, Yakima and Wenatchee, Wash., and in the State of Alaska outreach clinic. She leads the Neurofibromatosis Clinic and participates in the Skeletal Dysplasia Clinic at Children's and provides an adult cancer genetics clinic at Tacoma General Hospital. Areas of interest include skeletal dysplasias and cancer genetics.

  • Patient Testimonials

  • Awards and Honors

    Award Name Award Description Awarded By Award Date
    Western Society of Pediatric Research Travel Award 2004
    Paul Rubenstein, MD Award for Excellence in Clinical Research 2002
    Magna cum laude, University of Washington 1995
    Howard Hughes Research Scholarship, University of Washington 1994
    Phi Beta Kappa, University of Washington 1992
    The major goal is to introduce novel experimental standards that are realistic known complex protein samples, uniquely based on the diverse proteins.
  • Publications

    Manuscripts Submitted

    • D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, Garcia-Minaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wiezorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E
      FOXL2 copy number changes in the molecular pathogenesis of BPES: Unique cohort of 17 deletions
      Human Mutation, 2010 : 31((5))E1332-E1347

    Published Abstracts

    • Stephanie E. Wallace, MD
      Clinical Features in a 4 year old male with trisomy 8p23.3p11.1
    • Earl D, Wallace S, Tsuchiya K
      Recurrence of a 1 Mb 9q34.3 subtelomeric deletion in siblings detected by oligonucleotide array
    • Wallace SE, Earl DE, White K, Goldberg, MJ
      Macrocephaly, conductive hearing loss, atrial septal defect, and congenital radial head dislocation in a father and two sons
    • Wallace SE, Goldberg MJ, Done S
      Distal Phalanx and Nail Hypoplasia Associated with Osteopetrosis: Report of an Affected Mother and Son
    • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
      Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Review of the Literature, and Identification of a Mutation in TGFB1
    • Wallace SE, Salazar D, Cormier-Daire V, Lachman RS, Wilcox WR
      Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a 6 Generation Pedigree with Remarkable Variation in Expressivity and a Review of the Literature
    • Wallace SE, Lachman RS, Wilcox WR
      Update on Camurati-Engelmann Disease
    • Wallace SE, Lachman RS, Wilcox WR
      Clinical Features of Camurati-Engelmann Disease
    • Ravnan JB, Rosenfeld JA, Neill NJ, Bialer MG, Moore C, Wheeler P, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Schultz RA, Ballif BC, Shaffer LG
      Identification of a recurrent microdeletion of 3q13.2q13.31 associated with hypotonia and developmental delay

    Other Publications

    • Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L
      High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
      26178382 Human mutation, 2015 Nov. : 36(11)1052-63
    • Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr
      A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
      24491487 Neuromuscular disorders : NMD, 2014 April : 24(4)312-20 PMCID:PMC3959257
    • Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD
      Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
      20808231 Genetics in medicine : official journal of the American College of Medical Genetics, 2010 Oct. : 12(10)641-7
    • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
      Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
      15326622 American journal of medical genetics. Part A, 2004 Sep 1 : 129A(3)235-47
    • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR
      Marked Phenotype Variability in Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Identification of a Mutation in TGFBI, and Review
      American Journal of Medical Genetics, 2004 : 129A(3)235-247
    • Wallace SE, Wilcox WR
      Camurati-Engelmann Disease
      GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Available at, 1997 - 2010
    • Stephanie E. Wallace, MD, Lambert S and Kaneko CRS
      Possible Roles of the Nucleus Prepositus Hypoglossi in Smooth-Pursuit Eye Movements
      BIOS, 1996 : 66203-211
    • Wallace SE, Wilcox WR, Pagon RA, Bird TD, Dolan CR, Stephens K
      Camurati-Engelmann Disease
      20301335 1993
  • Presentations

    Presentation Title Event Location Date
    Cystic Fibrosis Clinical Testing - The Good, the Bad, and the Confusing AACC/Seattle Childrens Hospital Webinar Series Seattle, WA Nov. 2013
    Introduction to Dysmorphology, Common Syndromes A to Z North Pacific Pediatric Society 179th Scientific Conference Cle Elum, WA Aug. 2009
    Cancer Genetics Alaska Native Medical Center Grand Rounds Anchorage, AK March 2009
    Neurofibromatosis Tanana Valley Clinic Grand Rounds Fairbanks, AK Nov. 2008
    Genetics Tutorial Bothell High School Science Olympiad Team Bothell, WA April 2007 - May 2007
    Update on Cancer Genetics Evaluation and Testing Allenmore Hospital Tumor Board Tacoma, WA Feb. 2007
    Introduction to Cancer Genetics Tacoma General Hospital Tumor Board Tacoma, WA July 2006
    Breast Cancer Genetics Tacoma General Hospital Breast Tumor Board Tacoma, WA July 2006
    Neurofibromatoses Madrona Medical Center Noon Conference Bellingham, WA May 2006
    Update on Camurati-Engelmann Disease UCLA Intercampus Medical Genetics Annual Fellowship Retreat Los Angeles, CA May 2000
    Clinical Features of Camurati-Engelmann Disease UCLA Intercampus Medical Genetics Annual Fellowship Retreat Los Angeles, CA May 1999
  • Research Funding

    Grant Title Grantor Amount Award Date
    Academic Enrichment Fund "Effect of active utilization management on the value and cost of genetic testing" 2012 - 2014


Board Certification(s)

Medical Genetics, Clinical Genetics (M.D.)

Medical/Professional School

University of California Los Angeles, Los Angeles, CA

Clinical Interests

Long term management of genetic disorders; skeletal dysplasias