Journal of Medical Genetics: 58 (11)

Editorial

Call for emergency action to limit global temperature increases, restore biodiversity and protect health (5 September, 2021)
Lukoye Atwoli, Abdullah H Baqui, Thomas Benfield, Raffaella Bosurgi, Fiona Godlee, Stephen Hancocks, Richard Horton, Laurie Laybourn-Langton, Carlos Augusto Monteiro, Ian Norman, Kirsten Patrick, Nigel Praities, Marcel GM Olde Rikkert, Eric J Rubin, Peush Sahni, Richard Smith, Nicholas J Talley, Sue Turale, Damián Vázquez

Methodology in phenome-wide association studies: a systematic review (16 July, 2021)
Lijuan Wang, Xiaomeng Zhang, Xiangrui Meng, Fotios Koskeridis, Andrea Georgiou, Lili Yu, Harry Campbell, Evropi Theodoratou, Xue Li
Original research: Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective (29 September, 2020)
Huahua Zhong, Yiming Zheng, Zhe Zhao, Pengfei Lin, Jianying Xi, Wenhua Zhu, Jie Lin, Jun Lu, Meng Yu, Wei Zhang, He Lv, Chuanzhu Yan, Jing Hu, Zhaoxia Wang, Jiahong Lu, Chongbo Zhao, Yun Yuan, Sushan Luo

Original research:
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
(14 September, 2020)
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki

Original research: Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era (25 September, 2020)
Zhiying Xie, Chengyue Sun, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Gao Wang, Diana M Cornejo-Sanchez, Thashi Bharadwaj, Jin Yan, Lingxiang Zhang, Nicolas Pineda-Trujillo, Wei Zhang, Suzanne M. Leal, Isabelle Schrauwen, Zhaoxia Wang, Yun Yuan

Original research:
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations
(22 September, 2020)
Shanmuga Priya Bhaskaran, Teng Huang, Barani Kumar Rajendran, Maoni Guo, Jiangtao Luo, Zixin Qin, Bojin Zhao, Jiasheng Chian, Suicheng Li, San Ming Wang
Original research: Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma (29 September, 2020)
Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo, Mark M Iles, Jennifer H Barrett, Lambertus A Kiemeney, Nelleke A Gruis, Christi J van Asperen, Nienke van der Stoep

Original research: Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature (13 October, 2020)
Eungu Kang, Minji Kang, Younghee Ju, Sang-Joon Lee, Yong-Seok Lee, Dong-Cheol Woo, Young Hoon Sung, In-Jeoung Baek, Woo Hyun Shim, Woo-Chan Son, In Hee Choi, Eul-Ju Seo, Han-Wook Yoo, Yong-Mahn Han, Beom Hee Lee

Short report:
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome
(8 September, 2020)
Silke Peeters, Arne Decramer, Stuart Alan Cain, Peter Houpt, Frederik Verstreken, Jan Noyez, Christophe Hermans, Werner Jacobs, Martin Lammens, Erik Fransen, Ajay Anand Kumar, Geert Vandeweyer, Bart Loeys, Wim Van Hul, Clair Baldock, Eveline Boudin, Geert Mortier
Short report: Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy (16 September, 2020)
Nayeralsadat Fatemi, Najmeh Salehi, Laura Pignata, Pietro Palumbo, Maria Vittoria Cubellis, Fariba Ramazanali, Pierre Ray, Maryam Varkiani, Fakhreddin Reyhani-Sabet, Alireza Biglari, Angela Sparago, Basilia Acurzio, Orazio Palumbo, Massimo Carella, Andrea Riccio, Mehdi Totonchi