Most Read Articles

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki

10.1136/jmedgenet-2020-107595

April 5, 2021

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore

Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo

10.1136/jmedgenet-2020-107471

April 2, 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

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Leslie Patricia Molina-Ramírez, Claire Kyle, Jamie M Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau, George J Burghel, Laura Dutton, Siddharth Banka, Tracy A Briggs, Jill Clayton-Smith, Sofia Douzgou, Elizabeth A Jones, Helen M Kingston, Bronwyn Kerr, John Ealing, Suresh Somarathi, Kate E Chandler, Helen M Stuart, Emma MM Burkitt-Wright, William G Newman, Iain A Bruce, Graeme C Black, David Gokhale

10.1136/jmedgenet-2020-107303

April 20, 2021

Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study

Faiza Gaba, Shivam Goyal, Dalya Marks, Dhivya Chandrasekaran, Olivia Evans, Sadiyah Robbani, Charlotte Tyson, Rosa Legood, Ertan Saridogan, W Glenn McCluggage, Helen Hanson, Naveena Singh, D Gareth Evans, Usha Menon, Ranjit Manchanda, on behalf of the PROTECTOR team, Raji Ganesan, Gareth Bryson, Gareth Rowlands, Rupali Arora, Munaza Ahmed, Aarti Sharma, Gautam Mehra, Adam Rosenthal, Michelle Mackintosh, Sadaf Ghaem-Maghami, Omer Devaja, Sudha Sundar, Janos Balega, Tim Duncan, Claire Newton, Sonali Kaushik, Angela Brady, Supratik Chattopadhyay, Natalia Povolotskaya, Iain Cameron, Rema Iyer, Lucy Side, Katie Snape, Anil Tailor, Kavitha Thumuluru Madhuri, Katherine Edey, Sian Taylor, Manon van Seters, Suma Kodiathodi, Partha Sengupta, Scott Fegan, Karin Williamson, Andrew Phillips, Mark Willett, Tony Chalhoub, Sanjay Rao, Nicholas Matthews, Beena Abdul, Claire Park, Jane Borley, Ibraheem Hamoodi, Richard Hutson, Kerryn Lutchman-Singh, Richard Peevor, Mahalakshmi Gurumurthy, Kalpana Ragupathy, Emma Crosbie

10.1136/jmedgenet-2020-107501

February 10, 2021

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah

10.1136/jmedgenet-2019-106739

June 16, 2020