Associated Papers
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J et al.
Bone, 2018
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Miller EM et al.
Oncotarget, 2017
29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.
Chen J et al.
Plos One, 2016
27100181 (PubMed )
Supplement: pone.0153933.s001.xlsx › WTS-adenoma_samples-First_Batch
Somatic Variations in Cervical Cancers in Indian Patients.
Das P et al.
Plos One, 2016
27829003 (PubMed )
Supplement: pone.0165878.s001.xlsx › somatic_cosmic_hit.list
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Pepin MG et al.
Molecular Genetics & Genomic Medicine, 2013
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