Most Read Articles

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher, on behalf of UK Cancer Genetics Centres, Alan Donaldson, Frauke Pelz, Angela George, Anju Kulkarni, Dorothy Halliday, Katie Snape, Kai-Ren Ong, Rachel Harrison, Julian Adlard, Lynn Greenhalgh, Jennie Murray, Ajith Kumar, Richard Martin, David Goudie, Rosemarie Davison, Gillian Rea, Zosia Miedzybrodzka, Julian Barwell, Lucy Side

10.1136/jmedgenet-2021-108355

March 8, 2022

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

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene

Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira, Anett Marais, Khoula Al Shidhani, Sumaya Aloraimi, Galina Morales-Torres, Steffen Fisher, Laura Demuth, Laila Abdel Moteleb Selim, Nihal Al Menabawy, Maryam Busehail, Mohammed AlShaikh, Naser Gilani, Dler Nooruldeen Chalabi, Nasser S Alharbi, Majid Alfadhel, Mohammed Abdelrahman, Hanka Venselaar, Nadeem Anjum, Anjum Saeed, Malak Ali Alghamdi, Hamad Aljaedi, Hisham Arabi, Vasiliki Karageorgou, Suliman Khan, Zahra Hajjari, Mandy Radefeldt, Ruslan Al-Ali, Kornelia Tripolszki, Amer Jamhawi, Omid Paknia, Claudia Cozma, Huma Cheema, Najim Ameziane, Saleh Al-Muhsen, Peter Bauer

10.1136/jmedgenet-2021-108150

December 24, 2021

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach

10.1136/jmedgenet-2021-108281

March 22, 2022