FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4297264810> ?p ?o ?g. }

• W4297264810 endingPage "e0267770" @default.
• W4297264810 startingPage "e0267770" @default.
• W4297264810 abstract "Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common referrals in the Inherited Cardiovascular Condition (ICC) Genetics Service. Several issues must be discussed with patients and their families during the genetic consultation session, including the options for genetic testing and cardiovascular surveillance in family members. We developed an ICC registry and performed next-generation-based DNA sequencing for all patients affected by non-syndromic HCM and idiopathic DCM in our joint specialist genetics service. The target gene sequencing panel relied on the Human Phenotype Ontology with 237 genes for HCM (HP:0001639) and 142 genes for DCM (HP:0001644). All subjects were asked to contact their asymptomatic first-degree relatives for genetic counseling regarding their risks and to initiate cardiovascular surveillance and cascade genetic testing. The study was performed from January 1, 2014, to December 31, 2020, and a total of 62 subjects (31-HCM and 31-DCM) were enrolled. The molecular detection frequency was 48.39% (32.26% pathogenic/likely pathogenic, 16.13% variant of uncertain significance or VUS for HCM, and 25.81% (16.13% pathogenic/likely pathogenic, 9.68% VUS) for DCM. The most prevalent gene associated with HCM was MYBPC3 . The others identified in this study included ACTN2 , MYL2 , MYH7 , TNNI3 , TPM1 , and VCL . Among the DCM subjects, variants were detected in two cases with the TTN nonsense variants, while the others were missense and identified in MYH7 , DRSP3 , MYBPC3 , and SCN5A . Following the echocardiogram surveillance and cascade genetic testing in the asymptomatic first-degree relatives, the detection rate of new cases was 8.82% and 6.25% in relatives of HCM and DCM subjects, respectively. Additionally, a new pre-symptomatic relative belonging to an HCM family was identified, although the genomic finding in the affected case was absent. Thus, ICC service is promising for the national healthcare system, aiming to prevent morbidity and mortality in asymptomatic family members." @default.
• W4297264810 created "2022-09-28" @default.
• W4297264810 creator A5000749939 @default.
• W4297264810 creator A5013765426 @default.
• W4297264810 creator A5032779122 @default.
• W4297264810 creator A5040339227 @default.
• W4297264810 creator A5049889006 @default.
• W4297264810 creator A5050420570 @default.
• W4297264810 creator A5061163790 @default.
• W4297264810 creator A5061612473 @default.
• W4297264810 creator A5062186145 @default.
• W4297264810 creator A5065306350 @default.
• W4297264810 creator A5072284074 @default.
• W4297264810 creator A5083334581 @default.
• W4297264810 creator A5089983966 @default.
• W4297264810 date "2022-09-27" @default.
• W4297264810 modified "2023-09-25" @default.
• W4297264810 title "Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service" @default.
• W4297264810 cites W10554272 @default.
• W4297264810 cites W1964248172 @default.
• W4297264810 cites W1971259806 @default.
• W4297264810 cites W1978953141 @default.
• W4297264810 cites W1982332647 @default.
• W4297264810 cites W1982902653 @default.
• W4297264810 cites W1987683355 @default.
• W4297264810 cites W1995179921 @default.
• W4297264810 cites W1997615458 @default.
• W4297264810 cites W2019166705 @default.
• W4297264810 cites W2021011199 @default.
• W4297264810 cites W2026182775 @default.
• W4297264810 cites W2039114460 @default.
• W4297264810 cites W2043985983 @default.
• W4297264810 cites W2051978340 @default.
• W4297264810 cites W2052107498 @default.
• W4297264810 cites W2056381021 @default.
• W4297264810 cites W2061302189 @default.
• W4297264810 cites W2074459245 @default.
• W4297264810 cites W2077738720 @default.
• W4297264810 cites W2082231490 @default.
• W4297264810 cites W2087588809 @default.
• W4297264810 cites W2092277343 @default.
• W4297264810 cites W2097618980 @default.
• W4297264810 cites W2100906399 @default.
• W4297264810 cites W2111619469 @default.
• W4297264810 cites W2115378291 @default.
• W4297264810 cites W2118891131 @default.
• W4297264810 cites W2127423627 @default.
• W4297264810 cites W2128788602 @default.
• W4297264810 cites W2135302420 @default.
• W4297264810 cites W2146819040 @default.
• W4297264810 cites W2153151839 @default.
• W4297264810 cites W2167363119 @default.
• W4297264810 cites W2188474724 @default.
• W4297264810 cites W2283997874 @default.
• W4297264810 cites W2315633478 @default.
• W4297264810 cites W2548775624 @default.
• W4297264810 cites W2725378163 @default.
• W4297264810 cites W2756157078 @default.
• W4297264810 cites W2764148593 @default.
• W4297264810 cites W2768950762 @default.
• W4297264810 cites W2808048003 @default.
• W4297264810 cites W2924575476 @default.
• W4297264810 cites W2943325258 @default.
• W4297264810 cites W2978515721 @default.
• W4297264810 cites W2979563966 @default.
• W4297264810 cites W2985244214 @default.
• W4297264810 cites W3004531765 @default.
• W4297264810 cites W30142651 @default.
• W4297264810 cites W3018268201 @default.
• W4297264810 cites W3038160032 @default.
• W4297264810 cites W3083514600 @default.
• W4297264810 cites W3104775553 @default.
• W4297264810 cites W3113392623 @default.
• W4297264810 cites W3213354818 @default.
• W4297264810 cites W4210246086 @default.
• W4297264810 cites W4211091077 @default.
• W4297264810 cites W54615689 @default.
• W4297264810 doi "https://doi.org/10.1371/journal.pone.0267770" @default.
• W4297264810 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36166435" @default.
• W4297264810 hasPublicationYear "2022" @default.
• W4297264810 type Work @default.
• W4297264810 citedByCount "0" @default.
• W4297264810 crossrefType "journal-article" @default.
• W4297264810 hasAuthorship W4297264810A5000749939 @default.
• W4297264810 hasAuthorship W4297264810A5013765426 @default.
• W4297264810 hasAuthorship W4297264810A5032779122 @default.
• W4297264810 hasAuthorship W4297264810A5040339227 @default.
• W4297264810 hasAuthorship W4297264810A5049889006 @default.
• W4297264810 hasAuthorship W4297264810A5050420570 @default.
• W4297264810 hasAuthorship W4297264810A5061163790 @default.
• W4297264810 hasAuthorship W4297264810A5061612473 @default.
• W4297264810 hasAuthorship W4297264810A5062186145 @default.
• W4297264810 hasAuthorship W4297264810A5065306350 @default.
• W4297264810 hasAuthorship W4297264810A5072284074 @default.
• W4297264810 hasAuthorship W4297264810A5083334581 @default.
• W4297264810 hasAuthorship W4297264810A5089983966 @default.
• W4297264810 hasBestOaLocation W42972648101 @default.
• W4297264810 hasConcept C104317684 @default.

• next