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, Hospital of the University of Pennsylvania
Attending Physician, Pennsylvania Hospital
Attending physician, Virtua Health
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Division of Human Genetics
Hub for Clinical Collaboration
Office 12533
3500 Civic Center Blvd
Philadelphia, PA 19104
Division of Human Genetics
Hub for Clinical Collaboration
Office 12533
3500 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
51. Kilich, G, Jadhav R, Maurer K, Breen C, Jammihal T, Schindewolf E, Ganetzky R, Vanderver A, Skraban C, Rajagopalan R, Sullivan KE: Novel biallelic LIG3 mutations causing lethal phenotype with immunodeficiency. American Journal of Medical Genetics part A 2026.50. Erkut E, Somerville C, Schwartz MLB, McDonald L, Ding Q, Moran OM, Chen X, Manshaei R, Riedijk AS, Schnurer MT, Koboldt DC, Antonarakis SE, Bedoukian EC, Blanc X, Conlin LK, Cox H, Diderich KEM, Dingmann B, Dubourg C, Elmslie F, Esocbar LF, Gosselin R, Sacoto Guillen MJ, Haag CD, Herzig L, Jeeneea R, Kenia P, Kolokotronis K, Kopps AM, Kupper C, Lees H, Leonard J, Levy J, Littlejohn R, Mayer D, McLean SD, Pattani K, Perrin L, Pingault V, Quelin C, Ranza E, Rauch A, Reichert SL, Rosmaninho-Salgado J, Skraban C, Sousa S, Steubben M, Zanoni P, Kim RH, Scott IC, Jobling RK. : A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B. American Journal of Human Genetics 112(11), 2025.
Callahan KP, Mueller R, Joffe S, Skraban C, Spinner NB, Crew K, Wild KT, Clapp JT, Feudtner C: How Neonatologists Use Genetic Information. Journal of Pediatrics 2025.
Callahan KP, Mueller R, Joffe S, Skraban C, Spinner NB, Crew K, Clapp J, Munson D, Feudtner C: Parents' perceptions of the utility of genetic testing in the NICU. Genetics in Medicine 2025.
Iwata-Otsubo A, Rippert AL, Balciuniene J, Fiordaliso SK, Chen R, Markose P, Skraban, Gray C, Zackai EH, Dubbs HA, Deardorff MA, Conlin LK, Izumi K: 16q24.3 microdeletions disrupting upstream non-coding region of ANKRD11 cause KBG Syndrome. Genes 16(136), 2025.
Skraban C, Reichert SL, Heck A, Wild KT, Rajagopalan R, Conlin L, Dulik MC, Spinner NB: Rapid targeted genomic analysis in infants with cardiovascular anomalies. David W Smith Workshop 2025.
42. Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F : PSMD11 loss of function variants correlate with a neurodevelopmental phenotype, obesity, and increased interferon response. American Journal Human Genetics 111(7), 2024.
46. Burrill N, Crane H, Khalek N, Soni S, Wild KT, Skraban C, McManus M, Szigety K, Oliver ER, Partridge E, Agarwal S, Fisher A, Wang J, Moldenhauer JS. : Expansion of the prenatal phenotype of Baraitser-Winter syndrome: presentation of two cases of multiple congenital anomaly syndrome. American Journal Medical Genetics part A 194(10), 2024.
44. Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. : Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder. Human Genetics 143(3), 2024.
Sisroe T, Santos AD, Rippert AL, Gray C, Skraban CM, Nelson B, Tefft S, Helbig I, Li D, Bhoj EJ, Sobering AK. : Expanding the clinical phenotype and variant spectrum associated with RFX7. American Jounral Medical Genetics part A 194(12), 2024.