Associated Papers
Rare coding variants in DNA damage repair genes associated with timing of natural menopause.
Ward LD et al.
Hgg Advances, 2022
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cameli C et al.
Journal of Cellular and Molecular Medicine, 2021
Pathogenic Germ Line Variants in a Patient With Severe Toxicity From Breast Radiotherapy.
Wilhite TJ et al.
Clinical Breast Cancer, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_DNArep
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504
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