Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR et al.
Journal of Medical Genetics, 2023
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China.
Liu W et al.
Orphanet Journal of Rare Diseases, 2023
Radiological and Genetic Evaluation in Hypotonic Infants.
Gur S et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
Wang L et al.
Medicine, 2022
Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.
Peng Y et al.
Frontiers in Genetics, 2021
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
Clinical value of genetic analysis in prenatal diagnosis of short femur.
Liu J et al.
Molecular Genetics & Genomic Medicine, 2019
The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.
Hong S et al.
Nature Communications, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
FGFR3 mutational status and protein expression in patients with bladder cancer in a Jordanian population.
Bodoor K et al.
Cancer Epidemiology, 2010
FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer.
Tomlinson DC et al.
The Journal of Pathology, 2007
Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses.
Hafner C et al.
The Journal of Investigative Dermatology, 2007
FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin.
Hafner C et al.
The Journal of Investigative Dermatology, 2007
Role of activating fibroblast growth factor receptor 3 mutations in the development of bladder tumors.
Zieger K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005