Online First

November 04, 2024

October 28, 2024

October 26, 2024

October 21, 2024

October 16, 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

July 06, 2023

August 17, 2022