Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Por Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graham D., Liu, Jaron, Rahikkala, Elisa, Pivnick, Eniko K., Choudhri, Asim F., Krüger, Ulrike, Zemojtel, Tomasz, van Ravenswaaij-Arts, Conny, Mostafavi, Roya, Stolte-Dijkstra, Irene, Symoens, Sofie, Pajunen, Leila, Al-Gazali, Lihadh, Meierhofer, David, Robinson, Peter N., Mundlos, Stefan, Villarroel, Camilo E., Byers, Peter, Masri, Amira, Robertson, Stephen P., Schwarze, Ulrike, Callewaert, Bert, Reversade, Bruno, Kornak, Uwe
Publicado no Am J Hum Genet (2015)

Identification of novel candidate disease genes from de novo exonic copy number variants

Por Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita, Shaw, Chad A., Stankiewicz, Paweł
Publicado no Genome Med (2017)