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PEHO syndrome: the endpoint of different genetic epilepsies

Manali Chitre, Michael S Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L Wakeling, Angela F Brady, Sameer M Zuberi, Mohnish Suri, Alasdair P J Parker, C Geoffrey Woods

4 October 2018

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

Iván Galván-Femenía, Mireia Obón-Santacana, David Piñeyro, Marta Guindo-Martinez, Xavier Duran, Anna Carreras, Raquel Pluvinet, Juan Velasco, Laia Ramos, Susanna Aussó, J M Mercader, Lluis Puig, Manuel Perucho, David Torrents, Victor MorenoSee the full list of authors

30 August 2018

Use of zebrafish models to investigate rare human disease

Kathryn Isabel Adamson, Eamonn Sheridan, Andrew James Grierson

31 July 2018

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Lotte 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 era

Sarah 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 syndromes

Mirta 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 features

Marguerite 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 syndrome

Nadege 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 epimutation

Monika 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 consequences

Solveig 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

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