Associated Papers
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.
Alonso-González A et al.
The Lancet. Respiratory Medicine, 2025
40311650 (PubMed )
Supplement: mmc1.pdf
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B et al.
Clinical Immunology (orlando, Fla.), 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.
Tometten M et al.
Orphanet Journal of Rare Diseases, 2021
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR et al.
Blood, 2021
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
Clinical and genetic analysis of melanomas arising in acral sites.
Zaremba A et al.
European Journal of Cancer (oxford, England : 1990), 2019
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Li N et al.
Breast Cancer Research : Bcr, 2018
29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3
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