Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory surveySophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George J Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher BowlesSee the full list of authors
22 December 2023
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosisIlse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys
30 January 2024
Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSOAkiko Abe, Hidetaka Nomura, Atsushi Fusegi, Mayu Yunokawa, Arisa Ueki, Eri Habano, Hiromi Arakawa, Keika Kaneko, Yuko Minoura, Hitoshi Inari, Takayuki Ueno, Hiroyuki Kanao
16 December 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
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
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
Variant reclassification and clinical implicationsNicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne
31 January 2024