Cara M Skraban, M.D.

faculty photo
Assistant Professor of Clinical Pediatrics
Department: Pediatrics

Contact information
The Children's Hospital of Philadelphia
Roberts Individualized Medical Genetics 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

3. Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai EH, Bhoj EJ: De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. American Journal Medical Genetics 176: 969-972, 2018.

Grand K, Deardorff M, Cohen JL, Dowsett L, Mazzola S, McDougall C, Tarpinian J, Bedoukian E, Nesbitt A, Deneberg B, Lulis L, Santani A, Zackai E, Skraban C: CYP26B1 mutations in four living patients with craniosynostosis and multiple skeletal anomalies. American College of Medical Genetics, Charlotte, NC 2018.

4. Olsen HE, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg E, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, DDD Study, Donadieu J, Narayanan V, Ramsey KM, C4RCD Research Group, Nava C, Riviere J, Vitobello A, Mau-Them FT, Phillippe C, Bruel A, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thauvin-Robinet C: A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. American Journal Human Genetics 102, 2018.

Tarpinian J, Skraban C, Baker S, Krock B, Pritchard A, Deardorff M, Zackai E.: Compound heterozygous MYH3 variants identified in a patient with spondylocarpotarsal synostosis- undefined autosomal recessive form of a MYH3-related disorder? American College of Medical Genetics, Charlotte, NC 2018.

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.

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.

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Last updated: 08/06/2018
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