Associated Papers
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Sangiorgi E et al.
Genes, 2023
38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Toulmonde M et al.
Ebiomedicine, 2020
33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.
Pajares S et al.
Molecular Genetics and Metabolism Reports, 2020
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Carlston CM et al.
Jimd Reports, 2019
"Omics" data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy.
Campbell NV et al.
Bmc Medical Genomics, 2018
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00011-Table_S14.xlsx › Sheet1
Exomic sequencing of four rare central nervous system tumor types.
Bettegowda C et al.
Oncotarget, 2013
23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1c
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