Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndromeValentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'ArrigoSee the full list of authors
14 February 2023
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitionersAlison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely
17 March 2023
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutationsChe-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen
23 January 2023
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective studyChenghai Zhang, Dandan Zhu, Yurong Qu, Min Shi, Jingjiao Ma, Yebo Peng, Bowen Zhu, Houquan Tao, Tonghui Ma, TieYing Hou
10 January 2023
Variants in BSN gene associated with epilepsy with favourable outcomeTingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu
12 December 2022
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorderReza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
29 December 2022
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysisGaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash KulkarniSee the full list of authors
9 March 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C RamsdenSee the full list of authors
20 January 2023
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndromeVincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf
2 January 2023
FXN gene methylation determines carrier status in Friedreich ataxiaChristina Lam, Kaitlyn M Gilliam, Layne N Rodden, Kimberly A Schadt, David R Lynch, Sanjay Bidichandani
12 January 2023