Associated Papers
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
Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.
Luan Y et al.
Heliyon, 2025
39959475 (PubMed )
Supplement: mmc2.xlsx › Patient2-snvs
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__5.xlsx › _5
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S4
Recurrent PDGFRB mutations in unicentric Castleman disease.
Li Z et al.
Leukemia, 2019
30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2
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
Genomic alterations in gastric cancers discovered via whole-exome sequencing.
Zhang J et al.
Bmc Cancer, 2018
30567531 (PubMed )
Supplement: 12885_2018_5097_MOESM2_ESM.xlsx › Additional_files_Table_S2
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 › BC4_ERR166308
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