Genetic obesity: next-generation sequencing results of 1230 patients with obesityLotte Kleinendorst, Maarten P G Massink, Mellody I Cooiman, Mesut Savas, Olga H van der Baan-Slootweg, Roosje J Roelants, Ignace C M Janssen, Hanne J Meijers-Heijboer, Nine V A M Knoers, Hans Kristian Ploos van Amstel, Elisabeth F C van Rossum, Erica L T van den Akker, Gijs van Haaften, Bert van der Zwaag, Mieke M van HaelstSee the full list of authors
3 July 2018
Genetics of neuromuscular fetal akinesia in the genomics eraSarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft
29 June 2018
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromesMirta Basha, Bénédicte Demeer, Nicole Revencu, Raphael Helaers, Stephanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève Francois, Bénédicte Bayet, Miikka Vikkula
2 March 2018
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny LaffargueSee the full list of authors
4 April 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndromeNadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Obringer, Marie-Aude Spitz, Miria Stefanini, Vincent Laugel, Donata OrioliSee the full list of authors
23 March 2018
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutationMonika Morak, Ayseguel Ibisler, Gisela Keller, Ellen Jessen, Andreas Laner, Daniela Gonzales-Fassrainer, Melanie Locher, Trisari Massdorf, Anke M Nissen, Anna Benet-Pagès, Elke Holinski-Feder
22 February 2018
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequencesSolveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Eloise GiabicaniSee the full list of authors
9 December 2017
Genetics of Parkinson’s disease and related disordersPei-Lan Zhang, Yan Chen, Chen-Hao Zhang, Yu-Xin Wang, Pedro Fernandez-Funez
18 November 2017
Paediatric ovarian tumours and their associated cancer susceptibility syndromesCatherine Goudie, Leora Witkowski, Stephanie Vairy, W Glenn McCluggage, William D Foulkes
24 November 2017
CTCF deletion syndrome: clinical features and epigenetic delineationIkumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji KurosawaSee the full list of authors
28 August 2017