Pubblicazioni

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.

Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

2020 - JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cirillo, E.; Giardino, G.; Ricci, S.; Moschese, V.; Lougaris, V.; Conti, F.; Azzari, C.; Barzaghi, F.; Canessa, C.; Martire, B.; Badolato, R.; Dotta, L.; Soresina, A.; Cancrini, C.; Finocchi, A.; Montin, D.; Romano, R.; Amodio, D.; Ferrua, F.; Tommasini, A.; Baselli, L. A.; Dellepiane, R. M.; Polizzi, A.; Chessa, L.; Marzollo, A.; Cicalese, M. P.; Putti, M. C.; Pession, A.; Aiuti, A.; Locatelli, F.; Plebani, A.; Pignata, C.

Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity

2020 - JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Anomalous Origin of Left Common Carotid Artery from Left Pulmonary Artery in a 22q11.2 Deletion Syndrome Newborn with Right Aortic Arch and Aberrant Left Subclavian Artery

2020 - CIRCULATION. CARDIOVASCULAR IMAGING

Vignaroli, W.; Curione, D.; Perri, G.; Secinaro, A.; Filippelli, S.; Iorio, F. S.

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

2019 - AMERICAN JOURNAL OF HUMAN GENETICS

Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; McDonald-McGinn, Donna M; Mcginn, Daniel; Crowley, T Blaine; Repetto, Gabriela M; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Kates, Wendy R; Digilio, M Cristina; Unolt, Marta; Marino, Bruno; Pontillo, Maria; Armando, Marco; DI FABIO, Fabio; Vicari, Stefano; van den Bree, Marianne; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; Murphy, Clodagh M; Murphy, Declan; Schoch, Kelly; Shashi, Vandana; Tassone, Flora; Simon, Tony J; Shprintzen, Robert J; Campbell, Linda; Philip, Nicole; Heine-SuÃ±er, Damian; GarcÃa-MiÃ±aÃºr, Sixto; FernÃ¡ndez, Luis; Bearden, Carrie E; Vingerhoets, Claudia; van Amelsvoort, Therese; Eliez, Stephan; Schneider, Maude; Vorstman, Jacob A S; Gothelf, Doron; Zackai, Elaine; Agopian, A J; Gur, Raquel E; Bassett, Anne S; Emanuel, Beverly S; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Morrow, Bernice E

Attentional functioning in individuals with 22q11 deletion syndrome. Insight from ERPs

2018 - JOURNAL OF NEURAL TRANSMISSION

Mannarelli, Daniela; Pauletti, Caterina; Accinni, Tommaso; Carlone, Luca; Frascarelli, Marianna; Lattanzi, Guido Maria; CurrÃ , Antonio; Fattapposta, Francesco

22q and two: 22q11.2 deletion syndrome and coexisting conditions

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Cohen, J. L.; Crowley, T. B.; Mcginn, D. E.; Mcdougall, C.; Unolt, M.; Lambert, M. P.; Emanuel, B. S.; Zackai, E. H.; McDonald-McGinn, D. M.

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

2017 - EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Calcagni, Giulio; Unolt, Marta; Digilio, Maria Cristina; Baban, Anwar; Versacci, Paolo; Tartaglia, Marco; Baldini, Antonio; Marino, Bruno

Genome-wide association study to find modifiers for tetralogy of fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3

2017 - CIRCULATION, CARDIOVASCULAR GENETICS

Guo, Tingwei; Repetto, Gabriela M.; McDonald McGinn, Donna M.; Chung, Jonathan H.; Nomaru, Hiroko; Campbell, Christopher L.; Blonska, Anna; Bassett, Anne S.; Chow, Eva W. C.; Mlynarski, Elisabeth E.; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena; Schneider, Maude; Eliez, Stephan; Antonarakis, Stylianos E.; Coleman, Karlene; Tomita-Mitchell, Aoy; Mitchell, Michael E.; Digilio, M. Cristina; Dallapiccola, Bruno; Marino, Bruno; Philip, Nicole; Busa, Tiffany; Kushan-Wells, Leila; Bearden, Carrie E.; Piotrowicz, MaÅgorzata; HawuÅa, Wanda; Roberts, Amy E.; Tassone, Flora; Simon, Tony J.; Van Duin, Esther D. A.; Van Amelsvoort, ThÃ©rÃ¨se A.; Kates, Wendy R.; Zackai, Elaine; Johnston, H. Richard; Cutler, David J.; Agopian, A. J.; Goldmuntz, Elizabeth; Mitchell, Laura E.; Wang, Tao; Emanuel, Beverly S.; Morrow, Bernice E.

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.