Pubblicazioni

Application of 3-Dimensional Fetal Echocardiography in the Detection of Hidden Extended Ventricular Septal Defect

2023 - CIRCULATION. CARDIOVASCULAR IMAGING

Mastromoro, Gioia; Romano, Valerio; Riccardi, Riccardo; Orfeo, Luigi; Piacentini, Gerardo

Hybrid Single-Stage Repair of Kommerellâs Diverticulum in a Right Aortic Arch in a Patient With 22q11.2 Deletion Syndrome

2022 - VASCULAR AND ENDOVASCULAR SURGERY

Chourda, E.; Putotto, C.; Versacci, P.; Saltarocchi, S.; D'Abramo, M.; Tshomba, Y.; Tinelli, G.; Miraldi, F.

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

2021 - GENETICS IN MEDICINE

Scott, A.; Di Giosaffatte, N.; Pinna, V.; Daniele, P.; Corno, S.; D'Ambrosio, V.; Andreucci, E.; Marozza, A.; Sirchia, F.; Tortora, G.; Mangiameli, D.; Di Marco, C.; Romagnoli, M.; Donati, I.; Zonta, A.; Grosso, E.; Naretto, V. G.; Mastromoro, G.; Versacci, P.; Pantaleoni, F.; Radio, F. C.; Mazza, T.; Damante, G.; Papi, L.; Mattina, T.; Giancotti, A.; Pizzuti, A.; Laberge, A. -M.; Tartaglia, M.; Delrue, M. -A.; De Luca, A.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

2020 - AMERICAN JOURNAL OF HUMAN GENETICS

Zhao, Y.; Diacou, A.; Johnston, H. R.; Musfee, F. I.; McDonald-McGinn, D. M.; McGinn, D.; Crowley, T. B.; Repetto, G. M.; Swillen, A.; Breckpot, J.; Vermeesch, J. R.; Kates, W. R.; Digilio, M. C.; Unolt, M.; Marino, B.; Pontillo, M.; Armando, M.; Di Fabio, Fabio; Vicari, S.; van den Bree, M.; Moss, H.; Owen, M. J.; Murphy, K. C.; Murphy, C. M.; Murphy, D.; Schoch, K.; Shashi, V.; Tassone, F.; Simon, T. J.; Shprintzen, R. J.; Campbell, L.; Philip, N.; Heine-Suner, D.; Garcia-Minaur, S.; Fernandez, L.; Antonarakis, S. E.; Biondi, M.; Boot, E.; Breetvelt, E.; Busa, T.; Butcher, N.; Buzzanca, A.; Carmel, M.; Cleynen, I.; Cutler, D.; Dallapiccola, B.; de la Fuente Sanches, M. A.; Epstein, M. P.; Evers, R.; Fernandez, L.; Fritsch, R.; Algas, F. G.; Guo, T.; Gur, R.; Hestand, M. S.; Heung, T.; Hooper, S.; Jin, A.; Kushan-Wells, L.; Laorden-Nieto, A. T.; Lattanzi, G.; Marshall, C.; McCabe, K.; Michaelovsky, E.; Ornstein, C.; Silversides, C.; Tran, O.; van Duin, E. D. A.; Vergaelen, E.; Warren, S. T.; Weinberger, R.; Weizman, A.; Zhang, Z.; Zwick, M.; Bearden, C. E.; Vingerhoets, C.; van Amelsvoort, T.; Eliez, S.; Schneider, M.; Vorstman, J. A. S.; Gothelf, D.; Zackai, E.; Agopian, A. J.; Gur, R. E.; Bassett, A. S.; Emanuel, B. S.; Goldmuntz, E.; Mitchell, L. E.; Wang, T.; Morrow, B. E.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Baban, A.; Olivini, N.; Cantarutti, N.; Cali, F.; Vitello, C.; Valentini, D.; Adorisio, R.; Calcagni, G.; Alesi, V.; Di Mambro, C.; Villani, A.; Dallapiccola, B.; Digilio, M. C.; Marino, B.; Carotti, A.; Drago, F.

Vacuum-assisted closure therapy for the treatment of poststernotomy wound dehiscence in neonates and infants

2019 - THORACIC AND CARDIOVASCULAR SURGEON

LO TORTO, Federico; Turriziani, Gianmarco; Miraldi, Fabio; Carlesimo, Bruno; Ribuffo, Diego

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Campbell, I. M.; Sheppard, S. E.; Crowley, T. B.; Mcginn, D. E.; Bailey, A.; Mcginn, M. J.; Unolt, M.; Homans, J. F.; Chen, E. Y.; Salmons, H. I.; Gaynor, J. W.; Goldmuntz, E.; Jackson, O. A.; Katz, L. E.; Mascarenhas, M. R.; Deeney, V. F. X.; Castelein, R. M.; Zur, K. B.; Elden, L.; Kallish, S.; Kolon, T. F.; Hopkins, S. E.; Chadehumbe, M. A.; Lambert, M. P.; Forbes, B. J.; Moldenhauer, J. S.; Schindewolf, E. M.; Solot, C. B.; Moss, E. M.; Gur, R. E.; Sullivan, K. E.; Emanuel, B. S.; Zackai, E. H.; McDonald-McGinn, D. M.

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

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.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

2016 - HUMAN GENETICS

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 TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J.; Roberts, Amy E.; Piotrowicz, MaÅgorzata; Bearden, Carrie E.; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R.; Devoto, Marcella; Zackai, Elaine; Heine SuÃ±er, Damian; Goldmuntz, Elizabeth; Bassett, Anne S.; 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

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

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 TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J; Roberts, Amy E; Piotrowicz, MaÅgorzata; Bearden, Carrie E; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R; Devoto, Marcella; Zackai, Elaine; Heine SuÃ±er, Damian; Shaikh, Tamim H; Bassett, Anne S; Goldmuntz, Elizabeth; Morrow, Bernice E; Emanuel, Beverly S.