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Journal of Medical Genetics|December 11, 2024
Predicting the likelihood of BRCA1/2 germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individualsJie Sun, Lu Yao, Jiuan Chen, et al.Journal of Medical Genetics|December 11, 2024
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosisYinghong Pan, Babi Ramesh Reddy Nallamilli, Ruby Liu, et al.Journal of Medical Genetics|November 15, 2024
Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centreKayla Horowitz, Nellie H Fotopoulos, Alana J Mistry, et al.Journal of Medical Genetics|September 27, 2024
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in ChinaKexin Jiao, Jialong Zhang, Qiuxiang Li, et al.Journal of Medical Genetics|October 26, 2024
Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndromeFlorence Petit, Louise Devisme, Dimitri Tchernitchko, et al.Journal of Medical Genetics|February 26, 2025
Outcomes and experiences of genetic testing in children with congenital heart diseaseAnsley M Morrish, Bridget R O'Malley, Desiree C K Hilton, et al.Journal of Medical Genetics|February 16, 2025
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregatingJorge Diogo Da Silva, Nuno Maia, Paula Jorge, et al.Journal of Medical Genetics|February 12, 2025
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4Evon DeBose-Scarlett, Andrew K Ressler, Cassi Friday, et al.Journal of Medical Genetics|August 17, 2024
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in ChinaJiawen Wu, Junfeng Li, Daowei Zhang, et al.Journal of Medical Genetics|August 17, 2024
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)David S Moura, Daniel López López, Davide di Lernia, et al.Pageof 649