Associated Papers
Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases.
Ronzoni L et al.
Frontiers in Genetics, 2023
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock J et al.
Cell Reports, 2020
Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.
Li J et al.
Gut, 2020
31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__All_somatic_mutation
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Garg A et al.
American Journal of Medical Genetics. Part A, 2015
A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.
Gómez J et al.
Lung, 2015
Genetics of pulmonary hypertension.
Best DH et al.
Current Opinion in Cardiology, 2014
Novel inheritable caveolin-1 mutations in pulmonary arterial hypertension.
Desai AA
Circulation. Cardiovascular Genetics, 2012
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
Austin ED et al.
Circulation. Cardiovascular Genetics, 2012
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