Associated Papers
Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.
Walkenhorst M et al.
Frontiers in Medicine, 2025
41488087 (PubMed )
Supplement: Table_1.xlsx › Data
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.
Qian H et al.
Frontiers in Genetics, 2022
35547262 (PubMed )
Supplement: DataSheet1.xlsx › Table_S2
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.
Jiang J et al.
Frontiers in Oncology, 2021
34733795 (PubMed )
Supplement: Table_1.xlsx › Sheet1
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
A pan-cancer analysis of synonymous mutations.
Sharma Y et al.
Nature Communications, 2019
31189880 (PubMed )
Supplement: 41467_2019_10489_MOESM5_ESM.xlsx › Data_S3_ClinVar___Cancer
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
30680959 (PubMed )
Supplement: MGG3-7-na-s003.xlsx › Affected_brother
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_early_met_1
[Single nucleotide polymorphisms of the genes related with spermatogenesis impairment].
Ying HQ et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2011
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.
Stratakis CA et al.
Journal of Internal Medicine, 2009
Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.
Bonache S et al.
International Journal of Andrology, 2007
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