Editor's choice

Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
Pau Puigdevall, Lucilla Piccari, Isabel Blanco, Joan Albert Barberà, Dan Geiger, Celia Badenas, Montserrat Milà, Robert Castelo, Irene Madrigal

Journal of Medical Genetics Jul 2019, 56 (7) 481-490; DOI: 10.1136/jmedgenet-2018-105669
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report
Amanda 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, Emma Tudini, Clare Turnbull, Maaike PG Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles

Journal of Medical Genetics Jun 2019, 56 (6) 347-357; DOI: 10.1136/jmedgenet-2018-105872
Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
Nienke 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

Journal of Medical Genetics May 2019, 56 (5) 308-316; DOI: 10.1136/jmedgenet-2018-105635
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
Ian 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, Pia Summerour, Ali Varan, Yoon Sim Yap, Ouidad Zehou, Juha Peltonen, D Gareth Evans, Pierre Wolkenstein, Meena Upadhyaya

Journal of Medical Genetics Apr 2019, 56 (4) 209-219; DOI: 10.1136/jmedgenet-2018-105599
Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Karen 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

Journal of Medical Genetics Mar 2019, 56 (3) 131-138; DOI: 10.1136/jmedgenet-2018-105477
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 disorders
Victor 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, Ewa Obersztyn, Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski

Journal of Medical Genetics Feb 2019, 56 (2) 104-112; DOI: 10.1136/jmedgenet-2018-105527
Exosomes derived from exhausted CD8+ T cells impaired the anticancer function of normal CD8+ T cells
Xiaochen Wang, Haiyuan Shen, Qifeng He, Wenfang Tian, Anliang Xia, Xiao-Jie Lu

Journal of Medical Genetics Jan 2019, 56 (1) 29-31; DOI: 10.1136/jmedgenet-2018-105439
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

Journal of Medical Genetics Dec 2018, 55 (12) 803-813; DOI: 10.1136/jmedgenet-2018-105288
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 Moreno, Lauro Sumoy, Rafael de Cid

Journal of Medical Genetics Nov 2018, 55 (11) 765-778; DOI: 10.1136/jmedgenet-2018-105437
Use of zebrafish models to investigate rare human disease
Kathryn Isabel Adamson, Eamonn Sheridan, Andrew James Grierson

Journal of Medical Genetics Oct 2018, 55 (10) 641-649; DOI: 10.1136/jmedgenet-2018-105358

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