Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
33176122 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_4
[Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death].
Wu FY et al.
Fa Yi Xue Za Zhi, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death.
Lariccia V et al.
Journal of Biomedical Science, 2014
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG et al.
Plos One, 2011
22194935 (PubMed )
Supplement: pone.0028872.s001.pdf
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
González-Pérez P et al.
Journal of the Neurological Sciences, 2009
Molecular and muscle pathology in a series of caveolinopathy patients.
Fulizio L et al.
Human Mutation, 2005
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