Associated Papers
Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Riera-Escamilla A et al.
Human Reproduction Open, 2025
40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST4
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS08_het
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S et al.
Molecular Human Reproduction, 2020
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M et al.
Frontiers in Genetics, 2020
33193653 (PubMed )
Supplement: Table_1.xlsx › VUS_er_klassificering
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Germline_true_positive
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
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.
Lefevre JH et al.
Journal of Human Genetics, 2012
No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.
de Jong MM et al.
Cancer Genetics and Cytogenetics, 2004
Little evidence for involvement of MLH3 in colorectal cancer predisposition.
Hienonen T et al.
International Journal of Cancer, 2003
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