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.
Permanent link
 

Selected Publications

Barthold Julia Spencer, Wang Yanping, Kolon Thomas F, Kollin Claude, Nordenskjöld Agneta, Olivant Fisher Alicia, Figueroa T Ernesto, BaniHani Ahmad H, Hagerty Jennifer A, Gonzaléz Ricardo, Noh Paul H, Chiavacci Rosetta M, Harden Kisha R, Abrams Debra J, Kim Cecilia E, Li Jin, Hakonarson Hakon, Devoto Marcella: Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions. Human Reproduction 2015.

Barthold Julia S, Wang Yanping, Kolon Thomas F, Kollin Claude, Nordenskjöld Agneta, Olivant Fisher Alicia, Figueroa T Ernesto, BaniHani Ahmad H, Hagerty Jennifer A, Gonzalez Ricardo, Noh Paul H, Chiavacci Rosetta M, Harden Kisha R, Abrams Debra J, Kim Cecilia E, Mateson Abigail B, Robbins Alan K, Li Jin, Akins Robert E, Hakonarson Hakon, Devoto Marcella: Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. The Journal of Urology 193(5): 1637-45, 2015.

Grochowski Christopher M, Rajagopalan Ramakrishnan, Falsey Alexandra M, Loomes Kathleen M, Piccoli David A, Krantz Ian D, Devoto Marcella, Spinner Nancy B: Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. American Journal of Medical Genetics. Part A 167A(4): 891-3, 2015.

Tsai Ellen A, Grochowski Christopher M, Falsey Alexandra M, Rajagopalan Ramakrishnan, Wendel Danielle, Devoto Marcella, Krantz Ian D, Loomes Kathleen M, Spinner Nancy B: Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Human Mutation 36(6): 631-7, 2015.

Mlynarski Elisabeth E, Sheridan Molly B, Xie Michael, Guo Tingwei, Racedo Silvia E, McDonald-McGinn Donna M, Gai Xiaowu, Chow Eva W C, Vorstman Jacob, Swillen Ann, Devriendt Koen, Breckpot Jeroen, Digilio Maria Cristina, Marino Bruno, Dallapiccola Bruno, Philip Nicole, Simon Tony J, Roberts Amy E, Piotrowicz Małgorzata, Bearden Carrie E, Eliez Stephan, Gothelf Doron, Coleman Karlene, Kates Wendy R, Devoto Marcella, Zackai Elaine, Heine-Suñer Damian, Shaikh Tamim H, Bassett Anne S, Goldmuntz Elizabeth, Morrow Bernice E, Emanuel Beverly S: Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. American Journal of Human Genetics 96(5): 753-64, 2015.

Zukosky Kristen, Meilleur Katherine, Traynor Bryan J, Dastgir Jahannaz, Medne Livija, Devoto Marcella, Collins James, Rooney Jachinta, Zou Yaqun, Yang Michele L, Gibbs J Raphael, Meier Markus, Stetefeld Joerg, Finkel Richard S, Schessl Joachim, Elman Lauren, Felice Kevin, Ferguson Toby A, Ceyhan-Birsoy Ozge, Beggs Alan H, Tennekoon Gihan, Johnson Janel O, Bönnemann Carsten G: Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. JAMA Neurology 72(6): 689-98, 2015.

Kelsen Judith R, Dawany Noor, Moran Christopher J, Petersen Britt-Sabina, Sarmady Mahdi, Sasson Ariella, Pauly-Hubbard Helen, Martinez Alejandro, Maurer Kelly, Soong Joanne, Rappaport Eric, Franke Andre, Keller Andreas, Winter Harland S, Mamula Petar, Piccoli David, Artis David, Sonnenberg Gregory F, Daly Mark, Sullivan Kathleen E, Baldassano Robert N, Devoto Marcella: Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease. Gastroenterology 2015.

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.

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, 2014.

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Last updated: 08/27/2015
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