Most Read Articles

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

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

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Sunayna Best, Jing Yu, Jenny Lord, Matthew Roche, Christopher Mark Watson, Roel P J Bevers, Alex Stuckey, Savita Madhusudhan, Rosalyn Jewell, Sanjay M Sisodiya, Siying Lin, Stephen Turner, Hannah Robinson, Joseph S Leslie, Emma Baple, Genomics England Research Consortium, Carmel Toomes, Chris Inglehearn, Gabrielle Wheway, Colin A Johnson, Genomics England Research Consortium, JC Ambrose, P Arumugam, R Bevers, M Bleda, F Boardman-Pretty, C R Boustred, H Brittain, MA Brown, MJ Caulfield, GC Chan, T Fowler, A Giess, A Hamblin, S Henderson, TJP Hubbard, R Jackson, LJ Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, SEA Leigh, IUS Leong, FJ Lopez, F Maleady-Crowe, M McEntagart, F Minneci, L Moutsianas, M Mueller, N Murugaesu, AC Need, P O‘Donovan, CA Odhams, C Patch, D Perez-Gil, MB Pereira, J Pullinger, T Rahim, A Rendon, T Rogers, K Savage, K Sawant, RH Scott, A Siddiq, A Sieghart, SC Smith, A Sosinsky, A Stuckey, M Tanguy, AL Taylor Tavares, ERA Thomas, SR Thompson, A Tucci, MJ Welland, E Williams, K Witkowska, SM Wood

10.1136/jmedgenet-2022-108476

June 28, 2022

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G Macarthur, David R Thorburn, Anne H O'Donnell-Luria, John Christodoulou, Susan M White, Tiong Yang Tan

10.1136/jmedgenet-2021-107902

November 5, 2021

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres

10.1136/jmedgenet-2021-108385

June 29, 2022

Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors

Andrew Lee, Xin Yang, Jonathan Tyrer, Aleksandra Gentry-Maharaj, Andy Ryan, Nasim Mavaddat, Alex P Cunningham, Tim Carver, Stephanie Archer, Goska Leslie, Jatinder Kalsi, Faiza Gaba, Ranjit Manchanda, Simon Gayther, Susan J Ramus, Fiona M Walter, Marc Tischkowitz, Ian Jacobs, Usha Menon, Douglas F Easton, Paul Pharoah, Antonis C Antoniou

10.1136/jmedgenet-2021-107904

November 29, 2021