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 FloresSee the full list of authors
26 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 BulmerSee the full list of authors
26 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
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomesMing-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na HeSee the full list of authors
20 March 2024
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, Rene G Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher M Watson, Sahar MansourSee the full list of authors
8 March 2024
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosisWen Wen, Zhengye Zhao, Zhifa Zheng, Sen Zhao, Hengqiang Zhao, Xi Cheng, Huakang Du, Ziquan Li, Shengru Wang, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Nan Wu
8 May 2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE studyEric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit MehtaSee the full list of authors
8 November 2023
Cerebral visual impairment: genetic diagnoses and phenotypic associationsEmogene Shaw, Ian Flitcroft, Richard Bowman, Kate Baker, , Genomics England Research Consortium, John C Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R Boustred, Helen Brittain, Matthew A Brown, Mark J CaulfieldSee the full list of authors
8 March 2024
Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study – determination of immunogenicityDavid G Warnock, Eric L Wallace
8 April 2024