• Identification of novel genetic causes of Rett syndrome-like phenotypes
    Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel
  • CRISPR-Cas9 for medical genetic screens: applications and future perspectives
    Hui-Ying Xue, Li-Juan Ji, Ai-Mei Gao, Ping Liu, Jing-Dong He, Xiao-Jie Lu
  • Melanoma genetics
    Jazlyn Read, Karin A W Wadt, Nicholas K Hayward
  • A human laterality disorder caused by a homozygous deleterious mutation in MMP21
    Zeev Perles, Sungjin Moon, Asaf Ta-Shma, Barak Yaacov, Ludmila Francescatto, Simon Edvardson, Azaria JJT Rein, Orly Elpeleg, Nicholas Katsanis
  • Monogenic and chromosomal causes of isolated speech and language impairment
    C P Barnett, B W M van Bon
  • Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
    Maria Currás-Freixes, Lucía Inglada-Pérez, Veronika Mancikova, Cristina Montero-Conde, Rocío Letón, Iñaki Comino-Méndez, María Apellániz-Ruiz, Lara Sánchez-Barroso, Miguel Aguirre Sánchez-Covisa, Victoria Alcázar, Javier Aller, Cristina Álvarez-Escolá, Víctor M Andía-Melero, Sharona Azriel-Mira, María Calatayud-Gutiérrez, José Ángel Díaz, Alberto Díez-Hernández, Cristina Lamas-Oliveira, Mónica Marazuela, Xavier Matias-Guiu, Amparo Meoro-Avilés, Ana Patiño-García, Susana Pedrinaci, Garcilaso Riesco-Eizaguirre, Constantino Sábado-Álvarez, Raquel Sáez-Villaverde, Amaya Sainz de los Terreros, Óscar Sanz Guadarrama, Julia Sastre-Marcos, Bartolomé Scolá-Yurrita, Ángel Segura-Huerta, Maria de la Soledad Serrano-Corredor, María Rosa Villar-Vicente, Cristina Rodríguez-Antona, Esther Korpershoek, Alberto Cascón, Mercedes Robledo
  • Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
    Ibrahim Ghemlas, Hongbing Li, Bozana Zlateska, Robert Klaassen, Conrad V Fernandez, Rochelle A Yanofsky, John Wu, Yves Pastore, Mariana Silva, Jeff H Lipton, Josee Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark Belletrutti, Vicky R Breakey, Lawrence Jardine, Lisa Goodyear, Lillian Sung, Santhosh Dhanraj, Emma Reble, Amanda Wagner, Joseph Beyene, Peter Ray, Stephen Meyn, Michaela Cada, Yigal Dror
  • Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
    R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, University of Washington Center for Mendelian Genomics, P Chance, M A Parisi, I A Glass, J Shendure, D Doherty
  • Loss-of-function de novo mutations play an important role in severe human neural tube defects
    Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne-Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L Michaud, Guy A Rouleau, Valeria Capra, Zoha Kibar
  • Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
    Guilherme Lopes Yamamoto, Meire Aguena, Monika Gos, Christina Hung, Jacek Pilch, Somayyeh Fahiminiya, Anna Abramowicz, Ingrid Cristian, Michelle Buscarilli, Michel Satya Naslavsky, Alexsandra C Malaquias, Mayana Zatz, Olaf Bodamer, Jacek Majewski, Alexander A L Jorge, Alexandre C Pereira, Chong Ae Kim, Maria Rita Passos-Bueno, Débora Romeo Bertola

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