Most Read Articles

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

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull, CanVIG-UK, Stephen Abbs, Patrick Tarpey, Jonathan Bruty, James Drummond, James Whitworth, Anne Ramsay Bowden, Marc Tischowitz, Eamonn Maher, Shirley Heggarty, Sean Hegarty, Rosalind Martin, Peter Logan, Claire Byrne, Yvonne Wallis, Samantha Butler, Rachel Hart, Lowri Hughes, Kim Reay, Kai-Ren Ong, Joanne Mason, Ian Tomlinson, Ian Frayling, Sheila Palmer-Smith, Julian Sampson, Alex Murray, Munaza Ahmed, Louise Kiely, Louise Busby, Claire Brooks, Alison Taylor-Beadling, Ajith Kumar, Vishakha Tripathi, Mina Ryten, Louise Izatt, Anjana Kulkarni, Adam Shaw, Joanna Campbell, Huw Thomas, Daniel Chubb, Bethany Torr, Cankut Cubuk, Rachel Robinson, Brendan Mullaney, Julian Adlard, Karen-Lynn Greenhalgh, Emma Howard, Virginia Clowes, Angela Brady, George Burghel, Emma Woodward, Philip T Smith, Jade L Harris, Naomi L Bowers, Claire L Hartley, Ronnie Wright, Gareth Evans, Fiona Lalloo, Andrew Wallace, John Burn, James Tellez, Sarah Mackenzie, Helen Powell, Stephen Tennant, Joanna Tolmie, Dawn O’Sullivan, Rosemarie Davidson, Jonathan Grant, Daniel Stobo, Aisha Ansari, Rachael Tredwell, Joanne Field, Kirsty Bradshaw, Rachel Harrison, Logan Walker, Trudi Mcdevitt, Marie Duff, Catherine Clabby, Treena Cranston, Tina Bedenham, Evgenia Petrides, Lara Hawkes, Fiona McRonald, Sian Ellard, Ruth Cleaver, Carole Brewer, Nick Woodwaer, Stacey Daniels, Alison Callaway, Khalid Tobal, Shadi Albaba, Sarah Dell, Rodney Nyanhete, Richard Kirk, Mark Watson, Miranda Durkie, Jackie Cook, Hazel Clouston, Anne-Cecile Hogg, Sabrina Talukdar, Lorraine Hawkes, Laura Cobbold, Kate Tatton-Brown, Helen Hanson, Katie Snape, Charlene Crosby, Ayaovi Jimenez, Zoe Kemp, Terri Mcveigh, Clare Turnbull, Alice Garrett, Cathal O’Brien, Laura Yarram, Kenneth Smith, Helen Williamson, Alan Donaldson, Julian Barwell, Matilda Bradford, Lucy Side, Diana Eccles, Diana Baralle, Anneke Lucassen

10.1136/jmedgenet-2020-107248

November 18, 2020

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Rajiv D Machado, Carrie L Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier, John D Coulson, Marusa Debeljak, Josef Ekstein, Jeffrey R Fineman, William Christopher Golden, Emily L Griffin, Charaka Hadinnapola, Michael A Harris, Yoel Hirsch, Julie Elizabeth Hoover-Fong, Lawrence Nogee, Lewis H Romer, Samo Vesel, NIHR Bioresource – Rare Diseases, Stefan Gräf, Nicholas W Morrell, Laura Southgate, Wendy K Chung

10.1136/jmedgenet-2021-107831

September 7, 2021

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri, Fulvio D’Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, University of Washington Center for Mendelian Genomics (UW-CMG) group, M J Bamshad, S M Leal, D A Nickerson, P Anderson, T J Bacus, E E Blue, K Brower, K J Buckingham, J X Chong, D Cornejo Sánchez, C P Davis, C J Davis, C D Frazar, K Gomeztagle-Burgess, W W Gordon, M Horike-Pyne, J R Hurless, G P Jarvik, E Johanson, J T Kolar, C T Marvin, S McGee, D J McGoldrick, B Mekonnen, P M Nielsen, K Patterson, A Radhakrishnan, M A Richardson, G T Roote, E L Ryke, I Schrauwen, K M Shively, J D Smith, M Tackett, G Wang, J M Weiss, M M Wheeler, Q Yi, X Zhang

10.1136/jmedgenet-2021-108114

October 21, 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

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

Laurene Ben Aim, Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon

10.1136/jmedgenet-2020-107652

August 27, 2021