Identification of novel genetic causes of Rett syndrome-like phenotypesFátima 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 SauerSee the full list of authors
6 January 2016
CRISPR-Cas9 for medical genetic screens: applications and future perspectivesHui-Ying Xue, Li-Juan Ji, Ai-Mei Gao, Ping Liu, Jing-Dong He, Xiao-Jie Lu
16 December 2015
Melanoma geneticsJazlyn Read, Karin A W Wadt, Nicholas K Hayward
3 September 2015
A human laterality disorder caused by a homozygous deleterious mutation in MMP21Zeev Perles, Sungjin Moon, Asaf Ta-Shma, Barak Yaacov, Ludmila Francescatto, Simon Edvardson, Azaria JJT Rein, Orly Elpeleg, Nicholas Katsanis
1 October 2015
Monogenic and chromosomal causes of isolated speech and language impairmentC P Barnett, B W M van Bon
2 July 2015
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patientsMaria 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-GutiérrezSee the full list of authors
12 August 2015
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromesIbrahim 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 SinhaSee the full list of authors
1 July 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityR 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 ASee the full list of authors
19 June 2015
Loss-of-function de novo mutations play an important role in severe human neural tube defectsPhilippe 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
24 March 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme 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 JorgeSee the full list of authors
20 March 2015
