Most Read Articles

Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M Glaser, Alex V. Levin, Petra Liskova, Jeffrey C. Murray, Elena V. Semina

10.1136/jmg-2022-108646

July 26, 2022

A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

Bethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke Lucassen, Ranjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D Gareth Evans, Stephen Bremner, Clare Turnbull

10.1136/jmg-2022-108655

July 22, 2022

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population

Yong-Ping Chen, Shi-Hui Yu, Qian-Qian Wei, Bei Cao, Xiao-Jing Gu, Xue-Ping Chen, Wei Song, Bi Zhao, Ying Wu, Ming-Ming Sun, Fei-Fei Liu, Yan-Bing Hou, Ru-Wei Ou, Ling-Yu Zhang, Kun-Cheng Liu, Jun-Yu Lin, Xin-Ran Xu, Chun-Yu Li, Jing Yang, Zheng Jiang, Jiao Liu, Yang-Fan Cheng, Yi Xiao, Ke Chen, Fei Feng, Ying-Ying Cai, Shi-Rong Li, Tao Hu, Xiao-Qin Yuan, Xiao-Yan Guo, Hui Liu, Qing Han, Qing-Qing Zhou, Na Shao, Jian-Peng Li, Ping-Lei Pan, Sha Ma, Hui-Fang Shang

10.1136/jmedgenet-2021-107965

September 20, 2021

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway, Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Mark J Caulfield, Georgia C Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim JP Hubbard, Rob Jackson, Louise J Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E A Leigh, Ivonne US Leong, Javier F Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C Need, Peter O’Donovan, Chris A Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, TahrimaRahim; Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H Scott, Afshan Siddiq, Alexander Sieghart, Samuel C Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Taylor Tavares, Ellen RA Thomas, Simon R Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood

10.1136/jmedgenet-2021-108065

October 29, 2021

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho

10.1136/jmedgenet-2020-107623

November 23, 2021

A founder UMOD variant is a common cause of hereditary nephropathy in the British population

Manoj K Valluru, Noelle KX Chung, Mark Gilchrist, Laura Butland, Jackie Cook, Anna Takou, Abhijit Dixit, Michael N Weedon, Albert C M Ong, The Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Mark J Caulfield, Georgia C Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J P Hubbard, Rob Jackson, Louise J Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, Fiona MaleadyCrowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C Need, Peter O’Donovan, Chris A Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H Scott, Afshan Siddiq, Alexander Sieghart, Samuel C Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa TaylorTavares, Ellen R A Thomas, Simon R Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood

10.1136/jmg-2022-108704

August 29, 2022