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

Matera Ivana, Rusmini Marta, Guo Yiran, Lerone Margherita, Li Jiankang, Zhang Jianguo, Di Duca Marco, Nozza Paolo, Mosconi Manuela, Pini Prato Alessio, Martucciello Giuseppe, Barabino Arrigo, Morandi Francesco, De Giorgio Roberto, Stanghellini Vincenzo, Ravazzolo Roberto, Devoto Marcella, Hakonarson Hakon, Ceccherini Isabella: Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. European Journal of Human Genetics 24: 1211-5, 2016.

Barthold Julia Spencer, Pugarelli Joan, MacDonald Madolyn L, Ren Jia, Adetunji Modupeore O, Polson Shawn W, Mateson Abigail, Wang Yanping, Sol-Church Katia, McCahan Suzanne M, Akins Robert E, Devoto Marcella, Robbins Alan K: Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat. Molecular Human Reproduction 22: 18-34, 2016.

Mlynarski Elisabeth E, Xie Michael, Taylor Deanne, Sheridan Molly B, Guo Tingwei, Racedo Silvia E, McDonald-McGinn Donna M, 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, Goldmuntz Elizabeth, Bassett Anne S, Morrow Bernice E, Emanuel Beverly S: Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Human Genetics 135: 273-85, 2016.

Rajagopalan Ramakrishnan, Grochowski Christopher M, Gilbert Melissa A, Falsey Alexandra M, Coleman Karlene, Romero Rene, Loomes Kathleen M, Piccoli David A, Devoto Marcella, Spinner Nancy B: Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. American Journal of Medical Genetics. Part A 170: 750-3, 2016.

Tsai E, Gilbert M, Grochowski C, Underkoffler L, Meng H, Zhang H, Wang M, Shitaye H, Hankenson K, Piccoli D, Lin H, Kamath B, Devoto M, Spinner N, Loomes K: THBS2 is a candidate modifier of liver disease severity in Alagille syndrome. Cell Mol Gastroenterol Hepatol 2016.

Kelsen J, Dawany N, Martinez A, Grochowski C, Maurer K, Rappaport E, Piccoli D, Baldassano R, Mamula P, Sullivan K, Devoto M: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease. BMC Gastroenterology 15, 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.

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.

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Last updated: 08/03/2016
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