Associated Papers
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Bandini P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing.
Zhang X et al.
The Journal of Surgical Research, 2024
Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.
Li J et al.
Molecular Genetics & Genomic Medicine, 2021
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
Szymanski EP et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al.
American Journal of Medical Genetics. Part A, 2015
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S10.xls › Supp_Table_10
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Callewaert BL et al.
Human Mutation, 2009
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