Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
about
Genetic Misdiagnoses and the Potential for Health DisparitiesGenetics and disease of ventricular muscle.Clinical and Mechanistic Insights Into the Genetics of CardiomyopathyTitin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathyMissense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotypeIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressGuidelines for investigating causality of sequence variants in human diseaseExploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I.The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experiencePrioritization of retinal disease genes: an integrative approachPathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Whole-exome sequencing in familial atrial fibrillation.Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillationExome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.Genetics and heart failure: a concise guide for the clinicianGenetic advances in sarcomeric cardiomyopathies: state of the art.Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.Clinical applications of molecular genetic discoveries.Genetic mutations and mechanisms in dilated cardiomyopathyA Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive.Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.Genetics and genetic testing of dilated cardiomyopathy: a new perspective.Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation.A novel clinician interface to improve clinician access to up-to-date genetic results.Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism.Novel insight into the natural history of short QT syndrome.Genetics of congenital and drug-induced long QT syndromes: current evidence and future research perspectives.Genetic evaluation of dilated cardiomyopathy.Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing.
P2860
Q26316693-70C4EA12-2FA9-40B6-A30C-53D6FB930CDEQ27691994-46E5D8CD-A622-4B56-9D69-1DE3767A9B9BQ28075470-0FFB92F9-9441-42E3-9049-1319D067FA24Q28246696-D9873DB5-C4C2-4548-BEC2-3123A883FA10Q28304358-AB2A38DA-B118-48B5-8762-BF6E24679A16Q28394808-412B0F58-1C4A-470C-AA48-07EB29B06398Q28655218-AF9433B7-2529-4262-A4CA-F0F6A1694183Q30393558-73FB74FB-C0D9-4252-B15F-691832535E23Q30590291-859A907B-5812-4BC4-864C-F4A59F795D50Q31113482-41B6DA35-ED90-4C64-9DB2-C6A95573F597Q31159863-2E7450D1-3B3D-4BB7-A261-C6C389F34CF5Q34217688-32B70567-5E46-486C-AB08-FDFAF697B0D5Q34321612-E107CF05-DFAF-4467-AE70-8A468ACFCF93Q34735964-E1BDC13E-CBBB-444F-B312-6118EA243CB7Q35125692-128F9EAD-A73F-4259-AFEA-015C341D8B6AQ35139937-32D61DC3-8F62-45D8-9B22-DB37C589FE7FQ35145962-8692FAA3-3DBB-44C1-A476-F1A935AEEC66Q35756277-C5D5249E-9A8D-47A4-B563-643155805A86Q35820287-1C531CE0-D484-4138-A3AD-92D3D4C0DBA6Q36208711-95AB79AD-FEE1-407A-A863-7A01F6685AB7Q36478921-7F8BD551-5D1D-4E3D-BACF-43759D3F8F2BQ36479572-D9DABABC-B42B-4FAF-ACC0-8518EFB339BDQ36497170-ECD1169A-13A7-4FC5-9EFE-B4BCF1E022FDQ36533178-4EDFD2B7-F577-45F5-9BE2-91577494D12BQ36712985-22DBCE2C-20A1-4A7D-BC5B-D10425B3965AQ36845298-D2F87FFC-B392-44BF-BAC4-11F2D9CD238BQ36847480-04AA145C-9388-48B0-9248-11C8A007ECA0Q37052033-0967598C-0AE8-4F6C-B7DD-4DA2CE95A73FQ37274221-A2CF3F8B-0056-4C8B-8F2C-A75BF3E89BD0Q37363494-95FC32E3-7088-4434-82A3-D89B299CBCDEQ37463859-433E83B3-5F2E-4FE7-BDDC-775D5A557D8AQ37594505-569BFADD-EED2-4974-8B50-419BCB99332BQ37626338-2EFEDA02-A1E5-423D-9EBD-131864C5713BQ37642944-18B1590C-3A9E-48D5-9D7D-AE6E71410A11Q37681140-115C9AC8-099F-489A-A7ED-A46ECBB7D1DCQ37706496-59EF9AB5-A7EE-4F40-B8FE-63D1C1613976Q38091648-70186D3B-BCE2-4040-80F6-A9C1B87722B3Q38107893-59A7CA2A-8071-4943-8654-2C36B0D1B72CQ38736759-8A9B3F10-4252-4F47-A971-96D9FB904335Q38738916-2183015D-DF03-422E-830F-B78BFC36E3E3
P2860
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@ast
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@en
type
label
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@ast
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@en
prefLabel
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@ast
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@en
P2093
P2860
P1476
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
@en
P2093
Deborah A Nickerson
Duanxiang Li
Eden Martin
Evadnie Rampersaud
Mark J Rieder
Nadine Norton
National Heart, Lung and Blood Institute GO Exome Sequencing Project
Peggy D Robertson
Ray E Hershberger
P2860
P304
P356
10.1161/CIRCGENETICS.111.961805
P577
2012-02-15T00:00:00Z