Associated Papers
Whole-Exome Sequencing Identifies Novel and Previously Reported Mutations in a Case of Intravascular B-Cell Lymphoma.
Childs BA et al.
The American Journal of Dermatopathology, 2024
Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.
Hlaváč V et al.
Life Science Alliance, 2022
36229065 (PubMed )
Supplement: LSA-2022-01551_TableS16.xlsx › Table_S16
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J et al.
Frontiers in Genetics, 2022
35873489 (PubMed )
Supplement: DataSheet1.docx
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Analysis of mutations in six Chinese families with autosomal dominant polycystic kidney disease.
Wang H et al.
American Journal of Translational Research, 2020
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger T et al.
Plos One, 2015
25646624 (PubMed )
Supplement: pone.0116680.s014.pdf
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
Qi XP et al.
Gene, 2013
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