Associated Papers
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D1_hiPSCsvsPBMC_SNPs_InDels
The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
Rupar N et al.
Gene, 2024
Whole-exome sequencing combined with postoperative data identify c.1614dup (CAMKK2) as a novel candidate monogenic obesity variant.
Wang Y et al.
Frontiers in Endocrinology, 2024
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
Integrative Analyses Identify Potential Key Genes and Calcium-Signaling Pathway in Familial Atrioventricular Nodal Reentrant Tachycardia Using Whole-Exome Sequencing.
Huang J et al.
Frontiers in Cardiovascular Medicine, 2022
35924220 (PubMed )
Supplement: Table_3.XLS › Supplementary_Table_3_1
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
33504001 (PubMed )
Supplement: genes-12-00159-s001.zip › genes_-_1049728_-_supplementary › supplementary_tables.xlsx › STable2
Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.
Rose-Zerilli MJ et al.
Leukemia, 2016
26847028 (PubMed )
Supplement: leu201610x6.xls › 2015_RoseZerilli_WES_in_IGHVmut
Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.
Blomquist MR et al.
Neuro-oncology Advances, 0
32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_9.xlsx › SomaticMutations
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