Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease.
Riesmeijer SA et al.
Nature Communications, 2024
38172110 (PubMed )
Supplement: 41467_2023_44451_MOESM8_ESM.xlsx › Blad1
Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.
Landi MT et al.
Nature Genetics, 2020
32341527 (PubMed )
Supplement: NIHMS1574209-supplement-2.xlsx › Supplementary_Table_10
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE et al.
Nature Genetics, 2019
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Westland R et al.
Kidney International, 2015
26352300 (PubMed )
Supplement: NIHMS706352-supplement-supplement_1.pdf
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-00010-Table_S13.xlsx › Sheet1
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A082-01A.domain
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