Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie-Pierre Cordier, Christine Coubes, Benedicte Demeer
See the full list of authors28 March 2019
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertensionPau Puigdevall, Lucilla Piccari, Isabel Blanco, Joan Albert Barberà, Dan Geiger, Celia Badenas, Montserrat Milà, Robert Castelo, Irene Madrigal
20 March 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz
See the full list of authors8 April 2019
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutationsNienke J H van Os, Luciana Chessa, Corry M R Weemaes, Marcel van Deuren, Alice Fiévet, Judith van Gaalen, Nizar Mahlaoui, Nel Roeleveld, Christoph Schrader, Detlev Schindler, Alexander M R Taylor, Bart P C Van de Warrenburg, Thilo Dörk, Michèl A A P Willemsen
28 February 2019
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlationIan M Frayling, Victor-Felix Mautner, Rick van Minkelen, Roope A Kallionpaa, Safiye Aktaş, Diana Baralle, Shay Ben-Shachar, Alison Callaway, Harriet Cox, Diana M Eccles, Salah Ferkal, Holly LaDuca, Conxi Lázaro, Mark T Rogers, Aaron J Stuenkel
See the full list of authors10 December 2018
Medical consequences of pathogenic CNVs in adults: analysis of the UK BiobankKaren Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O’Donovan, Michael J Owen, George Kirov
20 October 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczałuba, Małgorzata Rydzanicz, Barbara Poszewiecka, Agata Skórka, Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk, Anna Walczak, Joanna Kosińska, Paweł Krajewski, Jennifer Castaneda
See the full list of authors23 October 2018
Exosomes derived from exhausted CD8+ T cells impaired the anticancer function of normal CD8+ T cellsXiaochen Wang, Haiyuan Shen, Qifeng He, Wenfang Tian, Anliang Xia, Xiao-Jie Lu
11 July 2018
PEHO syndrome: the endpoint of different genetic epilepsiesManali 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 cohortIván 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 Moreno
See the full list of authors30 August 2018
