Associated Papers
Identification of Novel Genomic Variants in COVID-19 Patients Using Whole-Exome Sequencing: Exploring the Plausible Targets of Functional Genomics.
Mir R et al.
Biochemical Genetics, 2025
A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression.
Li F et al.
Frontiers in Immunology, 2025
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
A whole genome sequencing approach to anterior cruciate ligament rupture-a twin study in two unrelated families.
Feldmann D et al.
Plos One, 2022
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.
Sio CA et al.
Pediatric Research, 2017
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
Kuhn M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
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 › BC3_ERR166307
Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.
Murphy SJ et al.
Gastroenterology, 2013
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › rd1_f40r3
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