Pubblicazioni

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay

2024 - ANNALS OF LABORATORY MEDICINE

Concolino, Paola; De Paolis, Elisa; Rinelli, Martina; Maneri, Giulia; Brisighelli, Francesca; Trozzi, Rita; Duranti, Simona; GiacÃ², Luciano; Piane, Maria; Preziosi, Alessia; Panfili, Arianna; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo

Melanotic neuroectodermal tumor of infancy (Mnti) and pineal anlage tumor (pat) harbor a medulloblastoma signature by dna methylation profiling

2021 - CANCERS

Lopez-Nunez, O.; Alaggio, R.; John, I.; Ciolfi, A.; Pedace, L.; Mastronuzzi, A.; Gianno, F.; Giangaspero, F.; Rossi, S.; Donofrio, V.; Cinalli, G.; Surrey, L. F.; Tartaglia, M.; Locatelli, F.; Miele, E.

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.

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

EMSY copy number variation in male breast cancers characterized for BRCA1 and BRCA2 mutations

2016 - BREAST CANCER RESEARCH AND TREATMENT

Navazio, ANNA SARA; Rizzolo, Piera; Silvestri, Valentina; Valentini, Virginia; Zelli, Veronica; Zanna, Ines; Masala, Giovanna; Bianchi, Simonetta; Tommasi, Stefania; Palli, Domenico; Ottini, Laura

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia

2015 - HUMAN MUTATION

Tsai, Ellen A; Grochowski, Christopher M; Falsey, Alexandra M; Rajagopalan, Ramakrishnan; Wendel, Danielle; Devoto, Marcella; Krantz, Ian D; Loomes, Kathleen M; Spinner, Nancy B.

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

2015 - HUMAN MUTATION

Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M.; Pinto, Dalila; Vaags, Andrea K.; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R.; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Marshall, Christian R.; Scherer, Stephen W.; Strug, Lisa J.; Collier, David A.; Pal, Deb K.