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
CRISPR-Cas9: a new and promising player in gene therapyLu Xiao-Jie, Xue Hui-Ying, Ke Zun-Ping, Chen Jin-Lian, Ji Li-Juan
24 February 2015
Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanomaJustin Rendleman, Matjaz Vogelsang, Anuj Bapodra, Christina Adaniel, Ines Silva, Duane Moogk, Carlos N Martinez, Nathaniel Fleming, Jerry Shields, Richard Shapiro, Russell Berman, Anna Pavlick, David Polsky, Yongzhao Shao, Iman OsmanSee the full list of authors
20 January 2015
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disordersJong Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn
29 January 2015
Mendelian randomisation applied to drug development in cardiovascular disease: a reviewLauren E Mokry, Omar Ahmad, Vincenzo Forgetta, George Thanassoulis, J Brent Richards
16 December 2014
Pseudogene in cancer: real functions and promising signatureLu Xiao-Jie, Gao Ai-Mei, Ji Li-Juan, Xu Jiang
12 November 2014
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type ISawitree Rattanasopha, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Pravit Kitidumrongsook, Kanya Suphapeetiporn, Vorasuk Shotelersuk
20 October 2014
Rare and low-frequency variants in human common diseases and other complex traitsGuillaume Lettre
3 September 2014
Juvenile myelomonocytic leukaemia and Noonan syndromeMarion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine PaillardSee the full list of authors
5 August 2014
