Online First

October 14, 2024

  • Cancer genetics
    Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
    Anna Byrjalsen, Ulrik Kristoffer Stoltze, Charlotte Lautrup, Lise Lotte Christensen, Torben Mikkelsen, Lisa Hjalgrim, Jesper Sune Brok, Christine Dahl, Kjeld Schmiegelow, Lotte Borgwardt, Birgitte Rode Diness, Thomas Van Overeem Hansen, Karin A W Wadt

October 11, 2024

October 08, 2024

October 07, 2024

  • Position statement
    Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
    Sian Ellard, Sian Morgan, Sarah L Wynn, Susan Walker, Andrew Parrish, Rachael Mein, Ana Juett, Joo Wook Ahn, Ian Berry, Emma-Jane Cassidy, Miranda Durkie, Louise Fish, Richard Hall, Emma Howard, Julia Rankin, Caroline F Wright, Zandra C Deans, Richard H Scott, Sue L Hill, Emma L Baple, Robert W Taylor Association for Clinical Genomic Science Rare Disease Position Statement Working Group

October 04, 2024

October 03, 2024

October 02, 2024

  • Cancer genetics
    Classification of PTEN germline non-truncating variants: a new approach to interpretation
    Henri Margot, Natalie Jones, Thibaut Matis, Dominique Bonneau, Tiffany Busa, Françoise Bonnet, Solene Conrad, Louise Crivelli, Pauline Monin, Sandra Fert-Ferrer, Isabelle Mortemousque, Sabine Raad, Didier Lacombe, Frédéric Caux, Nicolas Sevenet, Virginie Bubien, Michel Longy French Cowden Disease Network

September 27, 2024

  • Genotype-phenotype correlations
    Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
    Kexin Jiao, Jialong Zhang, Qiuxiang Li, Xiaoqing Lv, Yanyan Yu, Bochen Zhu, Huahua Zhong, Xu’en Yu, Jia Song, Qing Ke, Fangyuan Qian, Xinghua Luan, Xiaojie Zhang, Xueli Chang, Liang Wang, Meirong Liu, Jihong Dong, Zhangyu Zou, Bitao Bu, Haishan Jiang, LingChun Liu, Yue Li, Dongyue Yue, Xuechun Chang, Yongsheng Zheng, Ningning Wang, Mingshi Gao, Xingyu Xia, Nachuan Cheng, Tao Wang, Su-Shan Luo, Jianying Xi, Jie Lin, Jiahong Lu, Chongbo Zhao, Huan Yang, Pengfei Lin, Daojun Hong, Zhe Zhao, Zhiqiang Wang, Wenhua Zhu

September 26, 2024

September 24, 2024

  • Cancer genetics
    A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
    Cathy D Vocke, Christopher J Ricketts, Svetlana Pack, Mark Raffeld, Stephen Hewitt, Alexandra P Lebensohn, Lidenys O’Brien, Rabindra Gautam, Krista Reynolds, Laura S Schmidt, Kristin Choo, Alex Kenigsberg, Sandeep Gurram, Emily Y Chew, Naris Nilubol, Prashant Chittaboina, Maria J Merino, Mark W Ball, W Marston Linehan

September 23, 2024

September 11, 2024

August 29, 2024

August 24, 2024

January 19, 2024

July 06, 2023

August 17, 2022