Associated Papers
Rare and low-frequency variants in families with otitis media.
Santos-Cortez RLP et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Common genetic etiologies of sensorineural hearing loss in Koreans.
Jang SH et al.
Genomics & Informatics, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Ahmadmehrabi S et al.
Human Genetics, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
Graham SE et al.
Nature Communications, 2019
31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf
Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.
Kim YR et al.
Plos One, 2015
Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.
Loporcaro CG et al.
Archives of Pathology & Laboratory Medicine, 2014
Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.
Ruppert V et al.
Gene, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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