Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
|
31568572 |
2019 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
|
31333075 |
2019 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
Biomarker
|
disease |
BEFREE |
We will subsequently focus on the roles allelic imbalance and haploinsufficiency play within MYBPC3-linked HCM.
|
30456444 |
2019 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
|
31730716 |
2019 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.
|
29524613 |
2018 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
|
28971120 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.
|
28193612 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.
|
28087566 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
|
28356264 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.
|
28797094 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
|
28790153 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
|
29121657 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
|
28679633 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations.
|
28450932 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
|
28408708 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
|
28771489 |
2017 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
|
27483260 |
2016 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
|
27600940 |
2016 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
Cardiomyopathy, Hypertrophic, Familial
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy.
|
27688314 |
2016 |