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
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
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
Reduced penetrance of gene variants causing amyotrophic lateral sclerosisAndrew G L Douglas, Diana Baralle
16 December 2023
Variant reclassification and clinical implicationsNicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne
31 January 2024
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas CasadeiSee the full list of authors
21 September 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
Evidence of a genetic background predisposing to complex regional pain syndrome type 1Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH ClarkeSee the full list of authors
10 October 2023
