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
Phenotypic findings associated with variation in elastin.
Justice A et al.
Hgg Advances, 2025
39604264 (PubMed )
Supplement: mmc1.pdf
High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.
Marcos González S et al.
Biomedicines, 2023
37371859 (PubMed )
Supplement: biomedicines-11-01764-s001.zip › biomedicines-2420377-supplementary.pdf
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
Lee NY et al.
Human Genomics, 2022
Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes.
Ahmed WU et al.
Plos One, 2022
36584111 (PubMed )
Supplement: pone.0272261.s016.pdf
Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
Kopp ND et al.
Molecular Genetics & Genomic Medicine, 2018
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Delio M et al.
American Journal of Medical Genetics. Part A, 2013
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