Associated Papers
KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome.
Gensemer C et al.
Iscience, 2025
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.
Gensemer C et al.
Research Square, 2024
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP et al.
Orphanet Journal of Rare Diseases, 2017
28222800 (PubMed )
Supplement: 13023_2017_575_MOESM3_ESM.xlsx › Table_S2
SeqHBase: a big data toolset for family based sequencing data analysis.
He M et al.
Journal of Medical Genetics, 2015
25587064 (PubMed )
Supplement: jmedgenet-2014-102907-s1.pdf
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 › BC5_ERR166310
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