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The Lancet. Oncology|October 22, 2021
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective studyElizabeth K Bancroft, Elizabeth C Page, Mark N Brook, et al.
Brain : a Journal of Neurology|November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
American Journal of Human Genetics|April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Brain : a Journal of Neurology|February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersAfshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
British Journal of Cancer|January 5, 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predispositionChristos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, et al.
European Urology|February 4, 2014
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT studyElizabeth K Bancroft, Elizabeth C Page, Elena Castro, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
British Journal of Cancer|March 7, 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predispositionChristos Mikropoulos, Christina G Hutten Selkirk, Sibel Saya, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
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