The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classificationCharlie F Rowlands, Alice Garrett, Sophie Allen, Miranda Durkie, George J Burghel, Rachel Robinson, Alison Callaway, Joanne Field, Bethan Frugtniet, Sheila Palmer-Smith, Jonathan Grant, Judith Pagan, Trudi McDevitt, Terri P McVeigh, Helen Hanson
See the full list of authors3 September 2024
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, Jennifer Duff, Lein Dofash, Pilar Marti, Thomas Robertson, Juan Vilchez, Anita Cairns, Elizabeth Harris, Chiara Marini-Bettolo, Khalid Hundallah, Amal M Alhashem, Mohammed Al-Owain, Reza Maroofian
See the full list of authors28 August 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizuresWang Song, Wen-Jun Bian, Hua Li, Qing-Hui Guo, Jie Wang, Bin Tang, Jia-Yuan Zhang, Wei Wei, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Na He
4 July 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveSilvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler
See the full list of authors7 June 2024
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2D Gareth Evans, George J Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
12 April 2024
Estimating cancer risk in carriers of Lynch syndrome variants in UK BiobankEilidh Fummey, Pau Navarro, John-Paul Plazzer, Ian M Frayling, Sara Knott, Albert Tenesa
14 July 2024
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell deathJing Yang, Ya-Nan Zhang, Ren-Xue Wang, Chen-Zhi Hao, Yiling Qiu, Hao Chi, Wei-Sha Luan, HongYi Tang, Xiu-Juan Zhang, XuXu Sun, Jonathan A Sheps, Victor Ling, Muqing Cao, Jian-she Wang
30 May 2024
Phenotypic characterisation of SMAD4 variant carriersClaire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod
4 April 2024
A comparative medical genomics approach may facilitate the interpretation of rare missense variationBushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
20 March 2024
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendationsTerri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Emma L Baple, Helen Hanson
30 May 2024
