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
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndromeKerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David StauntonSee the full list of authors
31 January 2024
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohortXiaohong Yan, Jing Wang, Wen Yang, Linke Li, Tian Shen, Jia Geng, Qian Zhang, Mingjun Zhong, Wenyu Xiong, Fengxiao Bu, Yu Lu, Yu Zhao, Jing Cheng, Huijun Yuan
31 January 2024
Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variantsGabrielle Norrish, Marisa Gasparini, Ella Field, Elena Cervi, Juan Pablo Kaski
31 January 2024
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talusLiheng Chen, Shuoyang Zhao, Wenxia Song, Lihong Wang, Zerong Yao, Jianfei Gao, Xiaoze Li
31 January 2024
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
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
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