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
Phenotypic characterisation of SMAD4 variant carriersClaire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod
4 April 2024
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
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
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
A comparative medical genomics approach may facilitate the interpretation of rare missense variationBushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
20 March 2024
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
