Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfectaUmmey Hany, Christopher M Watson, Lu Liu, Claire E L Smith, Asmaa Harfoush, James A Poulter, Georgios Nikolopoulos, Richard Balmer, Catriona J Brown, Anesha Patel, Jenny Simmonds, Ruth Charlton, María Gabriela Acosta de Camargo, Helen D Rodd, Hussain JafriSee the full list of authors
18 November 2023
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practiceMelody Grace Redman, Rachel Helen Horton, Helena Carley, Anneke Lucassen
29 November 2023
Variant reclassification and clinical implicationsNicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne
31 January 2024
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
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
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
Reduced penetrance of gene variants causing amyotrophic lateral sclerosisAndrew G L Douglas, Diana Baralle
16 December 2023
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes ProjectClaire L Shovlin, Fatma I Almaghlouth, Ali Alsafi, Nicola Coote, Catherine Rennie, Gillian MF Wallace, Fatima S Govani, Genomics England Research Consortium
16 August 2023
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)Kelly Kohut, Beverley Speight, Julie Young, Rosalind Way, Jennifer Wiggins, Laura Monje-Garcia, Diana M Eccles, Claire Foster, Lesley Turner, Katie Snape, Helen Hanson, on behalf of the CanGene-CanVar Patient Reference Panel, , on behalf of the CanGene-CanVar Patient Reference Panel, Caroline DaleSee the full list of authors
30 November 2023
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiencyLéa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq, Christelle Dufour, Erell Guillerm, Etienne Rouleau, Pascale Varlet, Saïma ZiliSee the full list of authors
29 September 2023
