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
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 Berthet
See the full list of authors4 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
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
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health ServiceJade Howard, Hilary L Bekker, Christopher J McDermott, Alisdair McNeill
8 March 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosisUmut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K. Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores
See the full list of authors26 March 2024
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensusTerri Patricia McVeigh, Kevin J Monahan, Joseph Christopher, Nick West, Malcolm Scott, Jennie Murray, Helen Hanson, , UKCGG dMMR Consensus Meeting Attendees, Ruth Armstrong, Andrew Beggs, Cheryl Berlin, Adam Boyde, Angela Brady, Jeremy Bulmer
See the full list of authors26 March 2024
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease geneWu-Lin Charng, Momchil Nikolov, Isabel Shrestha, Mark A Seeley, Navya Shilpa Josyula, Anne E Justice, Matthew B Dobbs, Christina A Gurnett
25 April 2024