Associated Papers
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.
Yang R et al.
Orphanet Journal of Rare Diseases, 2025
Functional Enrichment Analysis of Rare Mutations in Patients with Brain Arteriovenous Malformations.
Zholdybayeva E et al.
Biomedicines, 2025
Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.
Yuan J et al.
Thrombosis Research, 2024
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database.
Shido K et al.
The Journal of Dermatology, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study.
Chen Y et al.
Frontiers of Medicine, 2021
Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
Zhou X et al.
Frontiers in Medicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).
Wang K et al.
Journal of Human Genetics, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.
Okuno M et al.
Journal of Diabetes Investigation, 2017
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Sakai H et al.
Human Genetics, 2012