Associated Papers
Exome Sequencing Uncovers Genetic Drivers of Multiple Sclerosis in a Multiplex Family.
Lintas C et al.
Genes, 2025
41300763 (PubMed )
Supplement: genes-16-01311-s001.zip › genes-3943432-supplementary.xlsx › Foglio1
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
Mohar NP et al.
International Journal of Molecular Sciences, 2024
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
37895139 (PubMed )
Supplement: ijms-24-15461-s001.zip › ijms-2642793-supplementary.pdf
Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
Hendriks WJAJ et al.
Frontiers in Cell and Developmental Biology, 2022
36755664 (PubMed )
Supplement: Table1.XLSX › Suppl_Table_1
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating
Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.
Hartman ML et al.
Cells, 2020
31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf
Increased burden of rare deleterious variants of the KCNQ1 gene in patients with large‑vessel ischemic stroke.
Janicki PK et al.
Molecular Medicine Reports, 2019
30816480 (PubMed )
Supplement: supplement_2.pdf
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients.
Lupini L et al.
Bmc Cancer, 2015
26508446 (PubMed )
Supplement: 12885_2015_1752_MOESM3_ESM.xlsx › Foglio1
Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.
Gan-Or Z et al.
Sleep Medicine, 2015
Germline PTPRD mutations in Ewing sarcoma: biologic and clinical implications.
Jiang Y et al.
Oncotarget, 2013
Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome.
Gan-Or Z et al.
Movement Disorders Clinical Practice, 0
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