Use of zebrafish models to investigate rare human disease

Kathryn Isabel Adamson, Eamonn Sheridan, Andrew James Grierson

10.1136/jmedgenet-2018-105358

July 31, 2018

Editor's choice

Mutations in IRS4 are associated with central hypothyroidism

Charlotte A Heinen, Emmely M de Vries, Mariëlle Alders, Hennie Bikker, Nitash Zwaveling-Soonawala, Erica L T van den Akker, Boudewijn Bakker, Gera Hoorweg-Nijman, Ferdinand Roelfsema, Raoul C Hennekam, Anita Boelen, A S Paul van Trotsenburg, Eric Fliers

10.1136/jmedgenet-2017-105113

July 30, 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 Moreno, Lauro Sumoy, Rafael de Cid

10.1136/jmedgenet-2018-105437

August 30, 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 Haelst, F J Berends, E O Aarts, S Bouma-de Jongh, I Von Rosenstiel, E G A H van mil, C J De Groot, H E Veenstra-knol, J B G m verheij, K E Stuurman, V L Wester, Y M C hendriks, M Bakker

10.1136/jmedgenet-2018-105315

July 3, 2018

Editor's choice

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Wu, Zihui Yan, Jia Chen, Xiaoxin Li, Xiaofei Song, Yuchen Niu, Jian Liu, Weisheng Chen, Yue Ming, Renqian Du, Cong Chen, Bo Long, Yisen Zhang, Xiangjun Tong, Shuyang Zhang, Jennifer E Posey, Bo Zhang, Zhihong Wu, Joshua D Wythe, Pengfei Liu, James R Lupski, Xinjian Yang, Nan Wu

10.1136/jmedgenet-2017-105224

August 17, 2018

Bayesian approach to determining penetrance of pathogenic SDH variants

Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh

10.1136/jmedgenet-2018-105427

September 10, 2018

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

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

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