Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathyChristoph Sandmann, Sabine Klaassen, Juan Pablo Kaski, Gabrielle Norrish, , International Paediatric Hypertrophic Cardiomyopathy Consortium investigators, Satish Adwani, Aris Anastasakis, Niels Holmark Andersen, Anwar Baban, Roberto Barriales-Villa, Elena Biagni, Tara Bharucha, Vinay Bhole, Georgia Sarquella BrugadaSee the full list of authors
16 May 2025
Ending nuclear weapons, before they end usChris Zielinski
15 May 2025
Clinical and genetic characteristics of PLA2G6-related parkinsonism in Southwest China and a comprehensive literature reviewYangfan Cheng, Yang Zhang, Yi Xiao, Shichan Wang, Sihui Chen, Xiaoting Zheng, Tianmi Yang, Qirui Jiang, Jingxuan Huang, Junyu Lin, Ruwei Ou, Chunyu Li, Qianqian Wei, Xueping Chen, Huifang Shang
13 May 2025
Identification of MACF1 as a causative gene of generalised epilepsyXiao-Yun Lei, Meng-Wen Zhang, Hui Sun, Wang Song, Xiao-Yu Liang, Cui-Shan Wang, Sheng Luo, Bing-Mei Li, Xiao-Rong Liu, Yao Wang, Yang Tian, Qian Peng, Jie Wang, Heng Meng, Na HeSee the full list of authors
11 May 2025
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variantsOlga Tsoulaki, D Gareth Evans, Khushboo Sinha, Neil Rajan, Farah Bakr, Helen Hatcher, Andrea Napolitano, Elena Finn, Sunil Iyengar, Aslam Sohaib, Timothy J Sadler, Claire Forde, Emma Roisin Woodward, Terri P McVeigh, Marc TischkowitzSee the full list of authors
11 May 2025
Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosisWu-Lin Charng, Gabe Haller, Julia Whittle, Momchil Nikolov, Addison Avery, Jose Morcuende, Philip Giampietro, Cathy Raggio, Nancy Miller, Anne E Justice, Natasha T Strande, Mark Seeley, Dale L Bodian, Carol A Wise, Diane S SepichSee the full list of authors
29 April 2025
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancerBethany Torr, Grace Kavanaugh, Monica Hamill, Christopher Jones, Helena Harder, Sophie Allen, Alice Garrett, Subin Choi, Rosalind Way, Rochelle Gold, Amy Taylor, Rhian Gabe, Anneke Lucassen, Ranjit Manchanda, Angela GeorgeSee the full list of authors
12 March 2025
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics serviceAlexander Roe, Andrea Forman, Fiona Lalloo, Terri P McVeigh, Helen Hanson, Katie Snape
19 February 2025
Canadian consensus for the assessment and testing of Lynch syndromeMelyssa Aronson, Laura Palma, Kara Semotiuk, Jennifer Nuk, Aaron Pollett, Harminder Singh, Heidi Rothenmund, Hilary Racher, Jaime Jessen, Stephen E Pautler, Alison Rusnak, Mari Rutka, Holly Etchegary, Teresa Tiano, Pardeep KaurahSee the full list of authors
12 March 2025
Limitations of genomics to predict and treat autism: a disorder born in the wombYehezkel Ben-Ari, Étienne É Danchin
13 March 2025