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
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insightsBurcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann
8 March 2024
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndromePauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
8 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
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
Reduced penetrance of gene variants causing amyotrophic lateral sclerosisAndrew G L Douglas, Diana Baralle
16 December 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, Christina Kanonidou, Daniel J Toddie-Moore, Jana Vandrovcova, Rebecca Darlay, Javier Santoyo-Lopez, Alison Meynert, NIHR BioResource, Hanadi Kazkaz, Rodney Grahame, Carole Cummings, Marion Bartlett, Neeti GhaliSee the full list of authors
9 October 2023
Variant reclassification and clinical implicationsNicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne
31 January 2024
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly, Jose Campos Parada, Shipra Bhatia, Jeffrey Joseph, Simon Holden, Trine E Prescott, Pierre Bitoun, Edwin P Kirk, Ruth Newbury-Ecob, Katherine Lachlan, Juan BernarSee the full list of authors
30 November 2023
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1Ichiro Takeuchi, Kanako Tanase-Nakao, Ayame Ogawa, Tohru Sugawara, Osuke Migita, Makoto Kashima, Touko Yamazaki, Akihiro Iguchi, Yasuhiro Naiki, Toru Uchiyama, Junya Tamaoki, Hiroki Maeda, Hirotaka Shimizu, Toshinao Kawai, Kosuke TaniguchiSee the full list of authors
13 October 2023