Marcella Devoto, PhD

faculty photo
Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
The Children’s Hospital of Philadelphia,
Division of Human Genetics,
ARC Room 1002,
3615 Civic Center Blvd
Philadelphia, PA 19104-4399
Office: (267)426-0124
Fax: (215) 590-3764
Education:
PhD (Statistics and Demography)
University of Bologna, Italy, 1983.
MSc (Applied Statistics)
Linacre College, University of Oxford, UK, 1986.
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Selected Publications

Diskin S, Capasso M, Diamond M, Oldridge D, Conkrite K, Bosse K, Russell M, Iolascon A, Hakonarson H, Devoto M, Maris J : Rare variants in TP53 influence neuroblastoma susceptibility. J Natl Cancer Inst 106, April 2014.

Tsai E, Grochowski C, Loomes K, Bessho K, Hakonarson H, Bezerra J, Russo P, Haber B, Spinner N, Devoto M: Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 133: 235-243, 2014.

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans N, Birk D, Barton E, Koch M, Bönnemann C: Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in human and mice Hum Mol Genet 2014.

Cui S, Leyva-Vega M, Tsai E, Eauclaire S, Glessner J, Hakonarson H, Devoto M, Haber B, Spinner N, Matthews R. : Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology 144: 1107-1115, 2013.

Capasso M, Diskin S, Totaro F, Longo L, De Mariano M, Russo R, Cimmino F, Hakonarson H, Tonini GP, Devoto M, Maris J, Iolascon A.: Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility. Carcinogenesis 34: 605-611, 2013.

Widdershoven J, Bowser M, Sheridan M, McDonald-McGinn D, Zackai E, Solot C, Kirschner R, Beemer F, Morrow B, Devoto M, Emanuel B: A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. Int J Pediatr Otorhinolaryngol 77: 123-127, 2013.

Feldman G, Parvizi J, Levenstien M, Scott K, Erickson J, Fortina P, Devoto M, Peters C: Developmental dysplasia of the hip: Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family. J Bone Miner Res 2013.

Gallant E, Francey L, Fetting H, Kaur M, Hakonarson H, Clark D, Devoto M, Krantz ID.: Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus. Am J Otolaryngol 34: 230-235, 2013.

Herman S, Guo T, McGinn D, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio M, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins A, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; and the International Chromosome 22q11.2 Consortium.: Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A 158A: 2781-2787, 2012.

Danjou F, Anni F, Fortina P, Perseu L, Satta S, Dessi C, Lai ME, Devoto M, Galanello R: : Genetic modifiers of beta-thalassemia and clinical severity as assessed by age at first transfusion. Haematologica 97: 989-993, 2012.

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Last updated: 08/19/2014
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