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Stephanie E. Wallace, MD

Stephanie E. Wallace, MD


On staff since September 2005

Children's Title: Associate Clinical Director, Medical Genetics


Board Certification(s)
Clinical Genetics (MD)
Medical/Professional School
UCLA School of Medicine, Los Angeles
Combined Pediatrics-Medical Genetics, Cedars-Sinai Medical Center, Los Angeles
Clinical Interests

Long term management of genetic disorders; skeletal dysplasias

Awards and Honors

Award NameAward DescriptionAwarded ByAward 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.


Clinical Features in a 4 year old male with trisomy 8p23.3p11.1
, 2011
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genetics in medicine : official journal of the American College of Medical Genetics , Oct. 2010: 12(10)641-7
FOXL2 copy number changes in the molecular pathogenesis of BPES: Unique cohort of 17 deletions
Human Mutation , 2010: 31((5))E1332-E1347
Macrocephaly, conductive hearing loss, atrial septal defect, and congenital radial head dislocation in a father and two sons
, 2010
Recurrence of a 1 Mb 9q34.3 subtelomeric deletion in siblings detected by oligonucleotide array
, 2010
Distal Phalanx and Nail Hypoplasia Associated with Osteopetrosis: Report of an Affected Mother and Son
, 2007
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
American journal of medical genetics. Part A , 2004 Sep 1: 129A(3)235-47
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
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a Four-Generation Pedigree, Review of the Literature, and Identification of a Mutation in TGFB1
, 2004
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease): Report of a 6 Generation Pedigree with Remarkable Variation in Expressivity and a Review of the Literature
, 2001
Update on Camurati-Engelmann Disease
, 2000
Clinical Features of Camurati-Engelmann Disease
, 1999
Camurati-Engelmann Disease
GeneReviews at GeneTests: Medical Genetics Information Resource [database online] Available at , 1997 - 2010
Possible Roles of the Nucleus Prepositus Hypoglossi in Smooth-Pursuit Eye Movements
BIOS , 1996: 66203-211
Camurati-Engelmann Disease
, 1993
Identification of a recurrent microdeletion of 3q13.2q13.31 associated with hypotonia and developmental delay

Primary Office

Seattle Children's
OC.9.850 - Medical Genetics
4800 Sand Point Way NE
Seattle, WA 98105

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