Cara M Skraban, M.D.
Associate Professor of Clinical Pediatrics (Human Genetics)
Attending Physician, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia
Attending Physician, The Individualized Medical Genetics Center, 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@chop.edu
skrabanc@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
Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC. : The diagnostic yield of exome sequencing in pediatric cardiomyopathy. Journal of Pediatrics 91(3), 2024.36. Izumi K, Ganetzky RD, Wertheim GBW, Skraban CM, Bedoukian EC, Wilkens A, Fincher C, Thomas NH, Ginsberg JP, Rheingold SR, Conlin LK, Deardorff MA. : Co-occurrence of Pallister-Killian syndrome and Burkitt lymphoma in a patient with near-normal neurocognitive development. Molecular Syndromology 14(4), 2023.
Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Santos FJR, Krantz ID, Murrell JR, Izumi K. : Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children’s hospital. American Journal of Medical Genetics Part A 191(8), 2023.
33. Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. : Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics 110(2), 2023.
39. Deniz E, Pasha M, Guerra ME, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani SA, Medne L, Skraban C, Krantz I, Khokha MK. : CFAP45, a heterotaxy and congenital heart disease genee, affects cilia stability. Developmental Biology. Developmental Biology 499, 2023.
Strong A, Behr M, Lott C, Clark AJ, Mentch F, Da Silva RP, Rux DR, Campbell R, Skraban C, Wang X, Anari JB, Sinder B, Cahill PJ, Sleiman P, Hakonarson H. : Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort. Scientific Reports 13(1), 2023.
40. Callahan KP, Radack J, Wojcik MH, Jenkins SM, Nye RT, Skraban C, Wild KT, Feudtner C. : Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016-2021. Genetics in Medicine 25(3), 2023.
34. Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R. : The clinical and genetic spectrum of autosomal recessive TOR1A-related disorders. Brain 146(8), 2023.
Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC. : Expanding the reproductive organ phenotype of CHD7-spectrum disorder. Am Journal Medical Genetics Part A 191(5), 2023.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. : Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine 25(8), 2023.