Associated Papers
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
40158885 (PubMed )
Supplement: mmc11.xlsx › Sheet1
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Figure_S9A
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
Horackova K et al.
Cancers, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome.
Cheng T et al.
Open Life Sciences, 2021
Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.
Oh EH et al.
Frontiers in Neurology, 2019
A novel somatic mutation of SIN3A detected in breast cancer by whole-exome sequencing enhances cell proliferation through ERα expression.
Watanabe K et al.
Scientific Reports, 2018
30375428 (PubMed )
Supplement: 41598_2018_34290_MOESM5_ESM.xlsx › Sheet1
Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population.
Henmyr V et al.
Bmc Medical Genetics, 2017
Relevance of single-nucleotide polymorphisms in human TLR genes to infectious and inflammatory diseases and cancer.
Trejo-de la O A et al.
Genes and Immunity, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family.
Ben-Ali M et al.
Human Mutation, 2011
Characterization and investigation of single nucleotide polymorphisms and a novel TLR2 mutation in the human TLR2 gene.
Merx S et al.
Human Molecular Genetics, 2007
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