Pubblicazioni

Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex

2025 - HUMAN MUTATION

You, Qingqing; Liu, Jingwei; Zhang, Ran; Wang, Zhi; Zhang, Bingying; Guo, Wencong; Xu, Ning; Bottillo, Irene; Shao, Leping

Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)

2025 - HUMAN MUTATION

Zanobio, Mariateresa; Nardecchia, Francesca; Cappuccio, Gerarda; Onore, Maria Elena; Di Letto, Pasquale; Rahman, Sarah Iffat; Terrone, Gaetano; Ugga, Lorenzo; De Giorgi, Agnese; Cas, Michele Dei; Trinchera, Marco; Leuzzi, Vincenzo; Piluso, Giulio; Nigro, Vincenzo; Brunetti-Pierri, Nicola; Torella, Annalaura

MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants

2022 - HUMAN MUTATION

Giovannetti, Agnese; Bianco, Salvatore Daniele; Traversa, Alice; Panzironi, Noemi; Bruselles, Alessandro; Lazzari, Sara; Liorni, NiccolÃ²; Tartaglia, Marco; Carella, Massimo; Pizzuti, Antonio; Mazza, Tommaso; Caputo, Viviana

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

2022 - HUMAN MUTATION

Levy, Michael A; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, MarÃa; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S; Cherick, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Ãstergaard, Elsebet; Pallares, Nathalie R; Piccione, Maria; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce B; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D; Mcneill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim

Clinical variability at the mild end of BRAT1ârelated spectrum:evidence from two families with genotypeâphenotype discordance

2021 - HUMAN MUTATION

Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lorena; Vasco, Gessica; Sette, Claudio; Carducci, Carla; Valente, Enza M.; Leuzzi, Vincenzo

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay

2021 - HUMAN MUTATION

Zhang, R.; Chen, Z.; Song, Q.; Wang, S.; Liu, Z.; Zhao, X.; Shi, X.; Guo, W.; Lang, Y.; Bottillo, I.; Shao, L.

Common atrium/atrioventricular canal defect and postaxial polydactyly: a mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 - HUMAN MUTATION

Piceci-Sparascio, Francesca; Palencia-Campos, Adrian; Soto-Bielicka, Patricia; Danzi, Angela; Guida, Valentina; Rosati, Jessica; Caparros-Martin, Jose Antonio; Torrente, Isabella; Cecilia D'Asdia, Maria; Versacci, Paolo; Briuglia, Silvana; Lapunzina, Pablo; Tartaglia, Marco; Marino, Bruno; Digilio, Maria Cristina; Ruiz-Perez, Victor L; De Luca, Alessandro

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene

2020 - HUMAN MUTATION

Piceci-Sparascio, F.; Palencia-Campos, A.; Soto-Bielicka, P.; D'Anzi, A.; Guida, V.; Rosati, J.; Caparros-Martin, J. A.; Torrente, I.; D'Asdia, M. C.; Versacci, P.; Briuglia, S.; Lapunzina, P.; Tartaglia, M.; Marino, B.; Digilio, M. C.; Ruiz-Perez, V. L.; De Luca, A.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423. genotype-phenotype study in neurofibromatosis type 1

2020 - HUMAN MUTATION

Koczkowska, M; Callens, T; Yunjia Chen, 1; Alicia Gomes, 1; Alesha, D Hicks 1; Angela Sharp, 1; Eric Johns, 1; Kim Armfield Uhas, 2; Linlea Armstrong, 3; Katherine Armstrong Bosanko, 4; Dusica Babovic-Vuksanovic, 5; Laura Baker, 6; Donald, G Basel 7; Mario Bengala, 8; James, T Bennett 9; Chelsea Chambers, 10; Lola, K Clarkson 11; Maurizio Clementi, 12; Fanny, M CortÃ©s 13; Mitch Cunningham, 14; M Daniela D'Agostino, 15; Martin, B Delatycki 16; Maria, C Digilio 17; Laura Dosa, 18; Silvia Esposito, 19; Stephanie Fox, 15; Mary-Louise Freckmann, 20; Christine Fauth, 21; Teresa Giugliano, 22; Giustini, S; Allison Goetsch, 24; Yael Goldberg, 25; Robert, S Greenwood 26; Cristin Griffis, 7; Karen, W Gripp 6; Punita Gupta, 27; Eric Haan, 28; Rachel, K Hachen 29; Tamara, L Haygarth 30; ConcepciÃ³n HernÃ¡ndez-Chico, 31; Katelyn Hodge, 32; Robert, J Hopkin 33; Louanne Hudgins, 34; Sandra Janssens, 35; Kory Keller, 36; Geraldine Kelly-Mancuso, 33; Aaina Kochhar, 37; Bruce, R Korf 1; Andrea, M Lewis 38; Jan Liebelt, 39; Angie Lichty, 11; Robert, H Listernick 24; Michael, J Lyons 11; Isabelle Maystadt, 40; Mayra Martinez Ojeda, 41; Carey McDougall, 42; Lesley, K McGregor 39; Daniela Melis, 43; Nancy Mendelsohn, 44; Malgorzata J, M Nowaczyk 45; June Ortenberg, 15; Karin Panzer, 46; John, G Pappas 47; Mary Ella Pierpont, 48; Giulio Piluso, 22; Valentina Pinna, 49; Eniko, K Pivnick 50; Dinel, A Pond 44; Cynthia, M Powell 51; Caleb Rogers, 36; Noa Ruhrman Shahar, 25; S Lane Rutledge, 1; Veronica Saletti, 19; Sarah, A Sandaradura 52; Claudia Santoro, 53; Ulrich, A Schatz 21; Allison Schreiber, 54; Daryl, A Scott 38; Elizabeth, A Sellars 4; Ruth Sheffer, 55; Elizabeth Siqveland, 44; John, M Slopis 56; Rosemarie Smith, 57; Alberto Spalice, 58; David, W Stockton 14; Haley Streff, 38; Amy Theos, 59; Gail, E Tomlinson 60; Grace Tran, 61; Pamela, L Trapane 62; Eva Trevisson, 12; Nicole, J Ullrich 63; Jenneke Van den Ende, 64; Samantha, A Schrier Vergano 65; Stephanie, E Wallace 9; Michael, F Wangler 38; David, D Weaver 32; Kaleb, H Yohay 66; Elaine Zackai, 42; Jonathan Zonana, 36; Vickie Zurcher, 54; Kathleen B, M Claes 35; Marica Eoli, 67; Yolanda Martin, 31; Katharina Wimmer, 21; Alessandro De Luca, 49; Eric Legius, 68; Ludwine, M Messiaen 1

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

2019 - HUMAN MUTATION

Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; DI GIOSAFFATTE, Niccolo'; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro

Characterization of human frataxin missense variants in cancer tissues

2019 - HUMAN MUTATION

Petrosino, Maria; Pasquo, Alessandra; Novak, Leonore; Toto, Angelo; Gianni, Stefano; Mantuano, Elide; Veneziano, Liana; Minicozzi, Velia; Pastore, Annalisa; Puglisi, Rita; Capriotti, Emidio; Chiaraluce, Roberta; Consalvi, Valerio

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants. An ENIGMA resource to support clinical variant classification

2019 - HUMAN MUTATION

Parsons, Michael T; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; FeliubadalÃ³, Lidia; Aalfs, Cora M; Agata, Simona; AittomÃ¤ki, Kristiina; Alducci, Elisa; Alonso-Cerezo, MarÃa ConcepciÃ³n; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; BalmaÃ±a, Judith; Barbieri, Elena; Bartram, Claus R; Blanco, Ana; BlÃ¼mcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ãke; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; CaldÃ©s, Trinidad; Caliebe, Almuth; Caligo, Maria A; Calvello, Mariarosaria; Capone, Gabriele L; Caputo, Sandrine M; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M; Concolino, Paola; Cops, Elisa J; Cortesi, Laura; Couch, Fergus J; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, JesÃºs; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M; Dutrannoy, VÃ©ronique; Eccles, Diana M; Ehrencrona, Hans; Enders, Ute; Evans, D Gareth; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Galvao, Henrique C R; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; GÃ³mez, Carolina; GÃ³mez Garcia, Encarna B; GonzÃ¡lez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; GutiÃ©rrez-EnrÃquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas V O; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; HÃ¼bbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A; Janssen, Linda A M; Jeschke, Udo; KaulfuÃ, Silke; Keupp, Katharina; Kiechle, Marion; KÃ¶lbl, Alexandra; Krieger, Sophie; Kruse, Torben A; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L; Lim, Joanna; Loeffler, Markus; LÃ³pez-FernÃ¡ndez, AdriÃ ; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D; Moghadasi, Setareh; Moles-FernÃ¡ndez, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N; Montes, Eva; Mori, Luigi; Moserle, Lidia; MÃ¼ller, Clemens R; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B; Niederacher, Dieter; Nielsen, Henriette R; Ong, Kai-Ren; Pachter, Nicholas; Palmero, Edenir I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; PÃ©rez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K; Porfirio, Berardino; Quante, Anne S; Ramser, Juliane; Reis, Rui M; Revillion, FranÃ§oise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; SÃ¡nchez de Abajo, Ana MarÃa; Schmidt, Gunnar; Schoenwiese, Ulrike; SeggewiÃ, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J; Susman, Rachel; Sutter, Christian; Tavtigian, Sean V; Teo, Soo H; TeulÃ©, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tognazzo, Silvia; Toland, Amanda E; Tornero, Eva; TÃ¶rngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H; van Asperen, Christi J; van Mackelenbergh, Marion T; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Ãngela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P G; Wagner, Sebastian A; Waha, Anke; Walker, Logan C; Walters, Rhiannon J; Wang-Gohrke, Shan; Weber, Bernhard H F; Weichert, Wilko; Wieland, Kerstin; WiesmÃ¼ller, Lisa; Witzel, Isabell; WÃ¶ckel, Achim; Woodward, Emma R; Zachariae, Silke; Zampiga, Valentina; Zeder-GÃ¶Ã, Christine; LÃ¡zaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K; Goldgar, David E; Spurdle, Amanda B

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

2019 - HUMAN MUTATION

Verrigni, D.; Di Nottia, M.; Ardissone, A.; Baruffini, E.; Nasca, A.; Legati, A.; Bellacchio, E.; Fagiolari, G.; Martinelli, D.; Fusco, L.; Battaglia, D.; Trani, G.; Versienti, G.; Marchet, S.; Torraco, A.; Rizza, T.; Verardo, M.; D'Amico, A.; Diodato, D.; Moroni, I.; Lamperti, C.; Petrini, S.; Moggio, M.; Goffrini, P.; Ghezzi, D.; Carrozzo, R.; Bertini, E.

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

2019 - HUMAN MUTATION

Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

2019 - HUMAN MUTATION

Morlino, S; Carbone, A; Ritelli, M; Fusco, C; Giambra, V; Nardella, G; Notarangelo, A; Panelli, P; Mazzoccoli, G; Zoppi, N; Grammatico, P; Wade, EM; Colombi, M; Castori, M; Micale, L.

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge

2019 - HUMAN MUTATION

Savojardo, C.; Petrosino, M.; Babbi, G.; Bovo, S.; Corbi-Verge, C.; Casadio, R.; Fariselli, P.; Folkman, L.; Garg, A.; Karimi, M.; Katsonis, P.; Kim, P. M.; Lichtarge, O.; Martelli, P. L.; Pasquo, A.; Pal, D.; Shen, Y.; Strokach, A. V.; Turina, P.; Zhou, Y.; Andreoletti, G.; Brenner, S. E.; Chiaraluce, R.; Consalvi, V.; Capriotti, E.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

2019 - HUMAN MUTATION

Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Touati, A.; Sotoudeh, S.; Mahmoudi, H.; Mansouri, P.; Daneshpazhooh, M.; Aghazadeh, N.; Hesari, K. K.; Basiri, M.; Londin, E.; Kumar, G.; Zeinali, S.; Fortina, P.; Uitto, J.

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

2019 - HUMAN MUTATION

Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Mahmoudi, H.; Karamzadeh, R.; Kariminejad, A.; Huang, J.; Li, L.; Jannace, T. F.; Fortina, P.; Zeinali, S.; White, T. W.; Uitto, J.

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

2018 - HUMAN MUTATION

Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I; Solano, Angela R; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N; Chan, T L; Couch, Fergus J; Goldgar, David E; Kruse, Torben A; Palmero, Edenir InÃªz; Park, Sue Kyung; Torres, Diana; van Rensburg, Elizabeth J; Mcguffog, Lesley; Parsons, Michael T; Leslie, Goska; Aalfs, Cora M; Abugattas, Julio; Adlard, Julian; Agata, Simona; AittomÃ¤ki, Kristiina; Andrews, Lesley; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; BalmaÃ±a, Judith; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M; Blazer, Kathleen R; Blok, Marinus J; Bonadona, ValÃ©rie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A; Campbell, Ian; Caputo, Sandrine; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; CollÃ©e, J Margriet; Cook, Jackie; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Pauw, Antoine; Delnatte, Capucine; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Dorfling, Cecilia M; Velazquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Easton, Douglas F; Eeles, Ros; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Engert, Stefanie; Evans, D Gareth; Faivre, Laurence; FeliubadalÃ³, Lidia; Ferrer, Sandra Fert; Foretova, Lenka; Fowler, Jeffrey; Frost, Debra; GalvÃ£o, Henrique C R; Ganz, Patricia A; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Greene, Mark H; Gronwald, Jacek; Gutierrez-Barrera, Angelica; Hahnen, Eric; Hauke, Jan; Henderson, Alex; Hentschel, Julia; Hogervorst, Frans B L; Honisch, Ellen; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Joseph, Vijai; Kaczmarek, Katarzyna; Karlan, Beth Y; Kast, Karin; Investigators, Kconfab; Kim, Sung-Won; Konstantopoulou, Irene; Korach, Jacob; Laitman, Yael; Lasa, Adriana; Lasset, Christine; LÃ¡zaro, Conxi; Lee, Annette; Lee, Min Hyuk; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Lindor, Noralane M; Longy, Michel; Loud, Jennifer T; Lu, Karen H; Lubinski, Jan; Machackova, Eva; Manoukian, Siranoush; Mari, VÃ©ronique; MartÃnez-Bouzas, Cristina; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Mickys, Ugnius; Miller, Austin; Montagna, Marco; Moysich, Kirsten B; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L; Nevanlinna, Heli; Ngeow, Joanne; Nguyen, Huu Phuc; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L; Offit, Kenneth; Ãfverholm, Anna; Ong, Kai-Ren; Osorio, Ana; Papi, Laura; Papp, Janos; Pasini, Barbara; Pedersen, Inge Sokilde; Msc, Ana Peixoto; Msc, Nina Peruga; Peterlongo, Paolo; Pohl, Esther; Ba, Nisha Pradhan; Prajzendanc, Karolina; Prieur, Fabienne; Pujol, Pascal; Radice, Paolo; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad Usman; Rhiem, Kerstin; Robson, Mark; Rodriguez, Gustavo C; Rogers, Mark T; Rudaitis, Vilius; Schmidt, Ane Y; Schmutzler, Rita Katharina; Senter, Leigha; Shah, Payal D; Sharma, Priyanka; Side, Lucy E; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Slavin, Thomas P; Snape, Katie; Sobol, Hagay; Southey, Melissa; Steele, Linda; Steinemann, Doris; Sukiennicki, Grzegorz; Sutter, Christian; Szabo, Csilla I; Tan, Yen Y; Teixeira, Manuel R; Terry, Mary Beth; TeulÃ©, Alex; Thomas, Abigail; Thull, Darcy L; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Hout, Annemieke H; van der Kolk, Lizet E; van der Luijt, Rob B; Van Heetvel

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer

2018 - HUMAN MUTATION

Sponziello, Marialuisa; Benvenuti, Silvia; Gentile, Alessandra; Pecce, Valeria; Rosignolo, Francesca; VirzÃ¬, Anna Rita; Milan, Melissa; Comoglio, Paolo M.; Londin, Eric; Fortina, Paolo; Barnabei, Agnese; Appetecchia, Marialuisa; Marandino, Ferdinando; Russo, Diego; Filetti, Sebastiano; Durante, Cosimo; Verrienti, Antonella

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

2018 - HUMAN MUTATION

Ferese, R.; Bonetti, M.; Consoli, F.; Guida, V.; Sarkozy, A.; Lepri, F. R.; Versacci, P.; Gambardella, S.; Calcagni, G.; Margiotti, K.; Piceci Sparascio, F.; Hozhabri, H.; Mazza, T.; Digilio, M. C.; Dallapiccola, B.; Tartaglia, M.; Hertog, J. D.; De Luca, A.; Marino, Bruno

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

2018 - HUMAN MUTATION

Nardella, G; Visci, G; Guarnieri, V; Castellana, S; Biagini, T; Bisceglia, L; Palumbo, O; Trivisano, M; Vaira, C; Scerrati, M; Debrasi, D; D'Angelo, V; Carella, M; Merla, G; Mazza, T; Castori, M; D'Agruma, L; Fusco, C.

Somatic mutations activating WiskottâAldrich syndrome protein concomitant with ras pathway mutations in juvenile myelomonocytic leukemia patients

2018 - HUMAN MUTATION

Coppe, A.; Nogara, L.; Pizzuto, M. S.; Cani, A.; Cesaro, S.; Masetti, R.; Locatelli, F.; te Kronnie, G.; Basso, G.; Bortoluzzi, S.; Bresolin, S.

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

2018 - HUMAN MUTATION

Giacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria

Structural, functional, and clinical characterization of a novel PTPN11 mutation cluster underlying noonan syndrome

2017 - HUMAN MUTATION

Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; DELLE VIGNE, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C; Zampino, Giuseppe; De Luca, Alessandro; CavÃ©, HÃ©lÃ¨ne; Zenker, Martin; Gelb, Bruce D; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B; Martinelli, Simone; Tartaglia, Marco