Pubblicazioni

Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

E. Stellacci, M. Niceta; Gripp, K. W.; Zampino, G.; Kousi, M.; Manselmi, M. Anselmi; Atraversa, A. Traversa; Ciolfi, A.; Stabley, D.; Bruselles, A.; Caputo, Viviana; Scecchetti, S. Cecchetti; Prudente, S.; Fiorenza, Maria Teresa; Boitani, Carla; Philip, N.; Dniyazov, D. Niyazov; Leoni, C.; Nakane, T.; Keppler Noreuil, K.; Braddock, S. R.; Gillessen Kaesbach, G.; Palleschi, A.; Campeau, P. M.; Lee, B. H. L.; Pouponnot, C.; Stella, L.; Gbocchinfuso, G. Bocchinfuso; Nkatsanis, N. Katsanis; KSol Church, K. Sol Church

Loss-of-function mutations in appl1 in familial diabetes mellitus

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Prudente, Sabrina; Jungtrakoon, Prapaporn; Marucci, Antonella; Ludovico, Ornella; Buranasupkajorn, Patinut; Mazza, Tommaso; Hastings, Timothy; Milano, Teresa; Morini, Eleonora; Mercuri, Luana; Bailetti, Diego; Mendonca, Christine; Alberico, Federica; Basile, Giorgio; Romani, Marta; Miccinilli, Elide; Pizzuti, Antonio; Carella, Massimo; Barbetti, Fabrizio; Pascarella, Stefano; Marchetti, Piero; Trischitta, Vincenzo; Di Paola, Rosa; Doria, Alessandro

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.

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Dazzo, Emanuela; Fanciulli, Manuela; Serioli, Elena; Minervini, Giovanni; Pulitano, Patrizia; Binelli, Simona; Di Bonaventura, Carlo; Luisi, Concetta; Pasini, Elena; Striano, Salvatore; Striano, Pasquale; Coppola, Giangennaro; Chiavegato, Angela; Radovic, Slobodanka; Spadotto, Alessandro; Uzzau, Sergio; La Neve, Angela; Giallonardo, Anna Teresa; Mecarelli, Oriano; Tosatto, Silvio C. E; Ottman, Ruth; Michelucci, Roberto; Nobile, Carlo

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Carvill, Gemma L; Mcmahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; MÃ¸ller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

A fast method that uses polygenic scores to estimate the variance explained by genome-wide marker panels and the proportion of variants affecting a trait

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Palla, L; Dudbridge, F

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno