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 ArveilerSee the full list of authors
7 June 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
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
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriersXin Yang, Thea M Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, Christian F. Singer, Anna Jakubowska, Carla H van Gils, Yen Y Tan, Christoph Engel, Muriel A Adank, Christi J van Asperen, Margreet G E M Ausems, Pascaline BerthetSee the full list of authors
4 June 2024
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talusLiheng Chen, Shuoyang Zhao, Wenxia Song, Lihong Wang, Zerong Yao, Jianfei Gao, Xiaoze Li
31 January 2024
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplarTerri Patricia McVeigh, Fiona Lalloo, Ian M Frayling, Andrew Latchford, Katie Snape, Miranda Durkie, Kevin J Monahan, Helen Hanson
2 May 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
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidismJianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
15 April 2024
