Cara M Skraban, M.D.

faculty photo
Assistant Professor of Clinical Pediatrics
Department: Pediatrics

Contact information
The Children's Hospital of Philadelphia
IMGC Center
3615 Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-7418
Fax: 267-426-7152
Education:
B.A. (Biochemistry/Molecular Biology, Summa Cum Laude)
B.A. Rollins College, 2006.
M.D. (Medicine)
University of Virginia School of Medicine, 2010.
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Selected Publications

Szelinger S, Lupski J, Martinez-Agosto J, McConkie-Rosell A, McDonald M, Meng L, Millan F, Nelson S, Bale S, Posey J, Sashi V, Scaglia F, Schoch K, Busk O, Coban Akdemi Z, Cohn R, Skraban C, Deardorff M, Dorrani N, Walley N, Wangler M, Wechsler S, Xiao R, Yang Y, Goldstein D, Lee H, Tarpinian J, Strong N, Beardem D, Stray-Pedersen A, Liston E, Rosenfeld J, Friedman J, Mikati M, Kranz P, Jasien J, Freemark M, Kansagra S, Freedman S, Bali D. : Diagnostic Utility of Collaborative Gene Matching Databases in Delineating a Novel Neurodevelopmental Syndrome Associated with a de novo NACC1 Mutation (poster). American College of Medical Genetics, Phoenix, Arizona 2017.

Skraban, C, Herrick, H, Zhao, X, Medne, L, Denenberg, E, Harris, MC, Santani, A, Zackai, EH: Acinar dysplasia, TBX4, and lung branching morphogenesis. David W. Smith Workshop on Malformations and Morphogenesis, Stowe, Vermont 2017.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bernat JA, Bird LM, Cao K, de Brouwer APM, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kempers M, Kinning E, Markie DM, Owens MM, Payne K, Person R, Pfundt R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Warner TC, Wheeler PG, Wieczorek D, Wilkens AB, Zonneveld-Huijssoon E; Deciphering Developmental Disorders Study, Kleefstra T, Robertson SP, Santani A, van Gassen KLI, Deardorff MA: WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. American Journal of Human Genetics 101(1): 139-148, 2017.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center.; Undiagnosed Diseases Network., Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V: A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay. American Journal of Human Genetics 100(2): 343-351, 2017.

Skraban C, Schindewolf E, Khalek N, Deardorff M: TRPS1 biallelic null; a severe lethal skeletal dysplasia (poster). International Skeletal Dysplasia Society Meeting, Bruges, Belgium 2017.

Grand K, Skraban C, Deardorff M, Zackai E, Keena B, Tarpinian J, Lord K, Langdon D, Collins J: Persistent Hyperinsulinemic Hypoglycemia in a Patient with a de novo NSD1 Point Mutation (poster). American College of Medical Genetics, Phoenix, Arizona 2017.

Tarpinian J, Li D, Medne L, Santani A, Skraban C, Deardorff M, Yum S, Zackai E, Licht D, Krock B: Patients with PTEN-like Clinical Presentation Identified to have Novel MTOR Gene Mutations (poster). American College of Medical Genetics, Phoenix, Arizona 2017.

Skraban CM, Wells CF, Markose P, Cho MT, Nesbitt AI, Au PYB, Begtrup A, Bird LM, Cao K, Denenberg EH, Douglas G, Gibson KM, Grand K, Goldenberg A, Innes AM, Juusola J, Kinning E, Markie DM, Owens MM, Payne K, Person R, Stocco A, Turner CLS, Verbeek NE, Walsh LE, Wheeler PG, Wilkens AB, Zonneveld-Huijssoon E, The DDD Study, Robertson SP, Santani A, van Gassen KLI, Deardroff MA: WDR26 haploinsufficiency causes a recognizable syndrome of intellectual disability, seizures, abnormal gait, and distinctive facial features. (featured platform presentation). American College of Medical Genetics, Phoenix, Arizona 2017.

Skraban C, Lee M, Wilkens A, Zackai EH, Deardorff M.: Expanding the Phenotypic Spectrum of SOX11 Mutations in Patients with Distal Digital Hypoplasia and Intellectual Disability (poster). American College of Medical Genetics, Tampa, Florida 2016.

Schindewolf E, Khalek N, Skraban C, Deardorff M. : TRPS-null Causing Lethal Skeletal Dysplasia (poster). American College of Medical Genetics, Tampa, Florida 2016.

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Last updated: 12/01/2017
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