Cara M Skraban, M.D.
Associate Professor of Clinical Pediatrics (Human Genetics)
Attending Physician, The Individualized Medical Genetics Center, Children’s Hospital of Philadelphia
Attending Physician, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia
Attending Physician, Hospital of the University of Pennsylvania
Attending Physician, Pennsylvania Hospital
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Division of Human Genetics
Roberts Individualized Medical Genetics Center
3615 Civic Center Blvd.
Philadelphia, PA 19104
Division of Human Genetics
Roberts Individualized Medical Genetics Center
3615 Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-7418
Fax: 267-426-7152
Fax: 267-426-7152
Email:
skrabanc@email.chop.edu
skrabanc@email.chop.edu
Publications
Education:
B.A. (Biochemistry/Molecular Biology, Summa Cum Laude)
Rollins College, 2006.
M.D. (Medicine)
University of Virginia School of Medicine, 2010.
Permanent linkB.A. (Biochemistry/Molecular Biology, Summa Cum Laude)
Rollins College, 2006.
M.D. (Medicine)
University of Virginia School of Medicine, 2010.
Description of Clinical Expertise
WDR26-Related Intellectual Disability/Skraban-Deardorff syndromeSelected Publications
Liu M, Smith CL, Biko DM, Li D, Pinto E, O’Connor N, Skraban C, Zackai EH, Hakonarson H, Dori Y, Sheppard S. : Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly. European Journal of Human Genetics 30(9): 1022-1028, Sep 2022.Katz OL, Wild KT, McEldrew D, Kaur M, Raible S, Skraban CM, Zackai EH, Medne L, Izumi K, Fortunato S, Weatherly J, Hartman T, Deppen P, Blair J, Devkota B, Schindler E, Hedrick H, Peranteau W, Krantz I. : Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases. Journal of Pediatrics 246(1): 251-265, Jul 2022.
Callahan KP, Flibotte J, Skraban C, Wild KT, Joffe S, Munson D, Feudtner C: Influence of Genetic Information on Neonatologists’ Decisions: A Psychological Experiment. Pediatrics 149(3): e2021052130, Mar 2022.
Callahan KP, Flibotte J, Skraban C, Wild KT, Joffe S, Munson D, Feudtner C: How neonatologists use genetic testing: findings from a national survey. Journal of Perinatology 42(3): 260-261, 2022.
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaranam P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, Gibson KM, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB: Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? The Journal of Molecular Diagnostics 24(3): 274-286, 2022.
Rodan L, Spillmann R, Kurata H, Lamothe S, Maghera J, Jamra R, Alkelai A, Antonarakis S, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, van Bogaert P, Bolkier Y, Burrage L, Christ B, Granadillo J, Dickson P, Donald K, Dubourg C, Eiliyahu A, Emrick L, Engelman K, Gonfiantini M, Good J, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O’Heir E, Ortiz-Gonzalez X, Pacio-Miguez, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld J, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, can Jaabrsveld R, Vincent M, Wang H, Zacher P, Undiagnosed Disease Network, Rush E, Pitt G, Au P, Shashi V. : Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genetics in Medicine 23(10): 1922-1932, Oct 2021.
Grand K*, Skraban C*, Cohen J, Dowsett L, Mazzola S, Tarpinian J, Bedoukian E, Nesbitt A, Denenberg B, Lulis L, Santani A, Zackai E, Deardorff M. : Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. American Journal of Medical Genetics Part A 185(9): 2766-2775, Sep 2021.
Srivastava S, Macke E, Swanson L, Coulter D, Klee E, Mullegama S, Xie Y, Lanpher B, Bedoukian E, Skraban C, Villard L, Milh M, Leppert M, Cohen J: Expansion of the genotypic and phenotypic spectrum of WASF1-related neurodevelopmental disorder. Brain Sciences 11(7): 931, Jul 2021.
Wade E, Jenkins Z, Morgan T, Gimenez G, Gibson H, Peng H, Russo R, Skraban C, Bedoukian E, Robertson S: Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American Journal of Medical Genetics Part A 185(12): 675-3682, Jul 2021.
Harris H, Nakayama T, Lai J, Zhao B, Argyrou N. Gubbels C, Soucy A, Genetti C, Suslovitch V, Rodan L, Tiller G, Lesca G, Gripp K, Asadollahi R, Hamosh A, Applegate C, Turnpenny P, Simon M, Volker-Touw C, van Gassen K, van Binsbergen E, Pfundt R, Gardeitchik T, de Vries B, Immken L, Buchanan C, Willing M, Toler T, Fassi E, Baker L, Vansenne F, Wang X, Ambrus J, Fannemel M, Posey J, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg C, Larsen M, Kibaek M, Labalme A, Poisson A, Payne K, Walsh L, Aldinger K, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp C, Pascolini G, Grammatico P, Broly M, Kury S, Nizon M, Rasool I, Zahoor M, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra R, Dobyns W, Cohen L, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal P, Beggs A, Yu T. : Distruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine 23(6): 1028-1040, Jun 2021.