Associated Papers
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
39876053 (PubMed )
Supplement: supplement_1.pdf
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients
Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
Moura S et al.
Genome Biology and Evolution, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.
Hu C et al.
Genes, 2022
Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.
Salazar R et al.
Genome Research, 2022
35210354 (PubMed )
Supplement: supp_gr.275695.121_Supplemental_Table_S13.xlsx › Table_S13
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V et al.
Human Genomics, 2021
Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.
Ryu YH et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Investigation on the Genomic Characterization of Uterine Sarcoma for rAd-p53 Combined with Chemotherapy Treatment.
Xia Y et al.
Human Gene Therapy, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ062
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.
Talebi F et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
Almeida MR et al.
Clinical Genetics, 2009
Achondroplasia.
Baujat G et al.
Best Practice & Research. Clinical Rheumatology, 2008
Mutations in different components of FGF signaling in LADD syndrome.
Rohmann E et al.
Nature Genetics, 2006
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