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Marcella Devoto, PhD
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Emeritus Professor CE of Pediatrics (Human Genetics)
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Department: Pediatrics
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Graduate Group Affiliations
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Contact information
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The Children’s Hospital of Philadelphia,
23 Division of Human Genetics,
16 ARC Room 1002,
3e 3615 Civic Center Blvd
Philadelphia, PA 19104-4399
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23 Division of Human Genetics,
16 ARC Room 1002,
3e 3615 Civic Center Blvd
Philadelphia, PA 19104-4399
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Office: (267)426-0124
34 Fax: (215) 590-3764
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34 Fax: (215) 590-3764
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Email:
devoto@email.chop.edu
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devoto@email.chop.edu
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Education:
21 8 PhD 26 (Statistics and Demography) c
35 University of Bologna, Italy, 1983.
21 8 MSc 1f (Applied Statistics) c
42 Linacre College, University of Oxford, UK, 1986.
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Permanent link21 8 PhD 26 (Statistics and Demography) c
35 University of Bologna, Italy, 1983.
21 8 MSc 1f (Applied Statistics) c
42 Linacre College, University of Oxford, UK, 1986.
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1c2 McDaniel Lee D, Conkrite Karina L, Chang Xiao, Capasso Mario, Vaksman Zalman, Oldridge Derek A, Zachariou Anna, Horn Millicent, Diamond Maura, Hou Cuiping, Iolascon Achille, Hakonarson Hakon, Rahman Nazneen, Devoto Marcella, Diskin Sharon J: Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. PLoS Genetics 13(5): e1006787, May 2017.
113 Kelsen JR, Dawany N, Conrad M, Devoto M.: Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey. 2 46 Inflamm Bowel Dis. 23(4): 591-592, Apr 2017.
b9 Kelsen J, Dawany N, Conrad M, Sullivan K, Behrens E, Devoto M.: A Diagnostic Approach of Immune Dysregulation on Very Early-Onset IBD. 2 59 Inflamm Bowel Dis. 23: Suppl 1:S1. doi: 10.1097/MIB, Feb 2017.
169 Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS.: Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. 2 3b BMC Urol. 16(1): 62, Oct 21 2016.
1bb 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.
248 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.
159 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.
1a1 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.
2d8 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.
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Selected Publications
18b Conrad Máire A, Dawany Noor, Sullivan Kathleen E, Devoto Marcella, Kelsen Judith R: Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis 23(12): 2252-2255, Dec 2017.1c2 McDaniel Lee D, Conkrite Karina L, Chang Xiao, Capasso Mario, Vaksman Zalman, Oldridge Derek A, Zachariou Anna, Horn Millicent, Diamond Maura, Hou Cuiping, Iolascon Achille, Hakonarson Hakon, Rahman Nazneen, Devoto Marcella, Diskin Sharon J: Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. PLoS Genetics 13(5): e1006787, May 2017.
113 Kelsen JR, Dawany N, Conrad M, Devoto M.: Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey. 2 46 Inflamm Bowel Dis. 23(4): 591-592, Apr 2017.
b9 Kelsen J, Dawany N, Conrad M, Sullivan K, Behrens E, Devoto M.: A Diagnostic Approach of Immune Dysregulation on Very Early-Onset IBD. 2 59 Inflamm Bowel Dis. 23: Suppl 1:S1. doi: 10.1097/MIB, Feb 2017.
169 Wang Y, Li J, Kolon TF, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Stabley D, Kim CE, Sol-Church K, Hakonarson H, Devoto M, Barthold JS.: Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. 2 3b BMC Urol. 16(1): 62, Oct 21 2016.
1bb 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.
248 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.
159 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.
1a1 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.
2d8 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.
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