Associated Papers
Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.
Ruggiero R et al.
International Journal of Cancer, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14
Oligo-Metastatic Cancers: Putative Biomarkers, Emerging Challenges and New Perspectives.
Ottaiano A et al.
Cancers, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM4_ESM.xlsx › Sheet1
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
32898326 (PubMed )
Supplement: CTM2-10-e152-s001.pdf
Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells.
Iovino S et al.
Diabetes, 2014
Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.
Ardon O et al.
Molecular Genetics and Metabolism Reports, 2014
Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome.
Zaridoust A et al.
Iranian Journal of Pediatrics, 2013
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.
Thiel CT et al.
Molecular Genetics and Metabolism, 2008
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