Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
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Human Genomics, 2025
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Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
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Npj Precision Oncology, 2024
39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
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Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.
Ganesamoorthy D et al.
Bmc Cancer, 2022
35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 1524_T0
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2
DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.
Jung H et al.
Nature Communications, 2019
31537801 (PubMed )
Supplement: 41467_2019_12159_MOESM8_ESM.xlsx › Sheet1
Germline cytoskeletal and extra-cellular matrix-related single nucleotide variations associated with distinct cancer survival rates.
Falasiri S et al.
Gene, 2018
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_2_late_met_3
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