Associated Papers
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
39833864 (PubMed )
Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S5_-_Category_C_variants
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues R et al.
Cancer Communications (london, England), 2021
33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S1_
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.
Tanskanen T et al.
Scandinavian Journal of Gastroenterology, 2013
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
Lagerstedt Robinson K et al.
Journal of the National Cancer Institute, 2007
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