Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A Hurst, Maria Bitner-Glindzicz, Mark Peters, Philip L Beales, Hywel J Williams

10.1136/jmedgenet-2018-105396

July 26, 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

10.1136/jmedgenet-2017-105110

March 2, 2018

Editor's choice

Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study

Xin Yang, Goska Leslie, Aleksandra Gentry-Maharaj, Andy Ryan, Maria Intermaggio, Andrew Lee, Jatinderpal K Kalsi, Jonathan Tyrer, Faiza Gaba, Ranjit Manchanda, Paul D P Pharoah, Simon A Gayther, Susan J Ramus, Ian Jacobs, Usha Menon, Antonis C Antoniou

10.1136/jmedgenet-2018-105313

May 5, 2018

Bacteria-free minicircle DNA system to generate integration-free CAR-T cells

Chen Cheng, Na Tang, Jiaxin Li, Shiwei Cao, Tongtong Zhang, Xiaofei Wei, Haoyi Wang

10.1136/jmedgenet-2018-105405

July 20, 2018

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group

Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side

10.1136/jmedgenet-2017-105188

April 16, 2018

Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

10.1136/jmedgenet-2017-105012

March 30, 2018

Fine mapping MHC associations in Graves’ disease and its clinical subtypes in Han Chinese

Xun Chu, Minjun Yang, Zhen-Ju Song, Yan Dong, Chong Li, Min Shen, Yong-Qiang Zhu, Huai-Dong Song, Sai-Juan Chen, Zhu Chen, Wei Huang

10.1136/jmedgenet-2017-105146

July 9, 2018

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

Yongjia Yang, Jihong Guo, Lei Dai, Yimin Zhu, Hao Hu, Lihong Tan, Weijian Chen, Desheng Liang, Jingliang He, Ming Tu, Kewei Wang, Lingqian Wu

10.1136/jmedgenet-2017-105145

July 24, 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

10.1136/jmedgenet-2018-105266

June 29, 2018

Editor's choice

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher

10.1136/jmedgenet-2017-105127

January 31, 2018