Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
about
Genetic Misdiagnoses and the Potential for Health DisparitiesClinical and Mechanistic Insights Into the Genetics of CardiomyopathyMultidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.Evolving health care through personal genomics.VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data."Big Data" Gets Personal.Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus).Increased Postnatal Cardiac Hyperplasia Precedes Cardiomyocyte Hypertrophy in a Model of Hypertrophic Cardiomyopathy.J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledgeDevelopment of a Comprehensive Sequencing Assay for Inherited Cardiac Condition GenesNext generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine.Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. PatientsMutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.Obscurin variants and inherited cardiomyopathies.Genetics of paediatric cardiomyopathies.Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.Recent Advances in Understanding and Managing Cardiomyopathy.The Design of the Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy (VANISH) Trial.Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.Using high-resolution variant frequencies to empower clinical genome interpretation.Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Left Atrial structure and function in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.Biomarkers of cardiovascular stress and fibrosis in preclinical hypertrophic cardiomyopathy.A curated gene list for reporting results of newborn genomic sequencing.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Cardiac contractility, motor function, and cross-bridge kinetics in N47K-RLC mutant mice.
P2860
Q26316693-5B5D51CF-1F39-467D-9812-C49BA7F127E4Q28075470-BC0304C4-D69B-41D4-BCCA-010E808F077AQ30388756-AD610F3C-7E88-4D1C-80AE-1B8F9D8E8661Q30398030-0B4E0D0E-1EB2-4C68-883D-2922DFB55605Q31032782-A46585C3-2283-4654-89C0-1E07983C7DFAQ31038577-EC43E200-1E37-45EE-9AE5-FB03EFBFFE29Q33774621-0C0251CD-5C73-40D9-B8E3-ED263DBFBF75Q33795234-A4C94B35-F661-40C0-BCD0-21CC5F7668D1Q34534329-41E03856-F19F-4B36-AB26-C6CFF717CB8DQ36620496-0AF433E0-4EAC-43DA-852A-D4203B47A3AAQ36706648-9AF0CFF7-2916-42A0-ADCF-A990FE320D5FQ36736003-9B422783-12E3-48E5-90E9-8AAE9CBE508EQ36948619-1F57202E-35F2-4A57-A883-82D36E4DE031Q37009456-1B0DBB33-4F84-41CD-A934-88E155716280Q37209940-6DD83878-BF48-4A9F-B168-8449EDAC4516Q37424109-033D732D-8C66-404E-A18B-8EE843A576F9Q37725295-3F204923-867C-4F46-8DA2-D8083015A56CQ38630261-914946A8-503B-406B-B259-F797494723E9Q38631746-6E3DF746-D724-455E-8028-0FC91D70874DQ38736582-0EBA7541-722D-441A-843A-5563CE9BC2C0Q38872061-1683312C-A26A-4D58-855A-EB3DA3471DCFQ39023719-C3CBE144-3E64-4113-B131-2F9336F2D6AAQ39310695-B5A3E26C-09E4-4F17-87CE-78E15FD29F73Q39430716-1F0C3882-024E-4982-B95F-EF230D37EFB5Q41062985-C3F280FB-24CF-459C-8EF3-5AA08AAD22A5Q41237982-C9D873E6-B289-4F26-BE24-FEE5B65EA48FQ41528372-09F61B1F-FA25-484A-A23D-27E930645C45Q41626761-F3BD6AE9-0A6B-4277-ACD3-4161DC6BFC22Q41936884-D9E4CE07-7BF7-4884-81B5-4B70EE74CB31Q42204804-86703C5E-B9A7-4D53-B003-37D8E8FB2BF4Q42347660-62544563-F13E-467C-A22A-5E6B4F9D3637Q42515078-BCF1C1C1-A4BA-42FB-850D-1A127D5AF417Q45999934-A9549B55-CB41-479D-8404-2469495EC2E7Q47104776-85FD8167-27BB-4F7A-A3B0-CD72FE9E7B32Q47109744-258CED77-4813-4BA0-85CC-8A38BC8A40B8Q47140449-9B49D976-5567-4F5C-AB6B-A4FB5D05A23EQ47162944-09C65C5E-A01D-422B-BEA2-3EF0999ABAE4Q47210536-F15677A3-A1DA-40D4-A1E8-F8EF1CC99F37Q47650845-70A9663A-3986-4A37-8A01-B22CCD366066Q47898693-C209606D-29A7-4782-8914-C55860A1BF15
P2860
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Results of clinical genetic te ...... imited additional sensitivity.
@en
type
label
Results of clinical genetic te ...... imited additional sensitivity.
@en
prefLabel
Results of clinical genetic te ...... imited additional sensitivity.
@en
P2093
P2860
P50
P356
P1433
P1476
Results of clinical genetic te ...... limited additional sensitivity
@en
P2093
Ahmed A Alfares
Birgit H Funke
Christine E Seidman
Eugene H Clark
Gregory McDermott
Heather M McLaughlin
J G Seidman
Larry J Babb
Samantha B Baxter
Stephanie W Cox
P2860
P2888
P304
P356
10.1038/GIM.2014.205
P407
P577
2015-01-22T00:00:00Z
P5875
P6179
1039548118