FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386529895> ?p ?o ?g. }

• W4386529895 abstract "Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA abnormalities have been inconsistent, which may complicate clinical interpretation of abnormal testing results and hinder a more complete understanding of genotype–phenotype relationships. Methods and Results Patients with CHD and abnormal clinical CMA were accrued from 9 pediatric cardiac centers. Highly detailed cardiac phenotypes were systematically classified and analyzed for their association with CMA abnormality. Hierarchical classification of each patient into 1 CHD category facilitated broad analyses. Inclusive classification allowing multiple CHD types per patient provided sensitive descriptions. In 1363 registry patients, 28% had genomic disorders with well‐recognized CHD association, 67% had clinically reported copy number variants (CNVs) with rare or no prior CHD association, and 5% had regions of homozygosity without CNV. Hierarchical classification identified expected CHD categories in genomic disorders, as well as uncharacteristic CHDs. Inclusive phenotyping provided sensitive descriptions of patients with multiple CHD types, which occurred commonly. Among CNVs with rare or no prior CHD association, submicroscopic CNVs were enriched for more complex types of CHD compared with large CNVs. The submicroscopic CNVs that contained a curated CHD gene were enriched for left ventricular obstruction or septal defects, whereas CNVs containing a single gene were enriched for conotruncal defects. Neuronal‐related pathways were over‐represented in single‐gene CNVs, including top candidate causative genes NRXN3 , ADCY2 , and HCN1 . Conclusions Intensive cardiac phenotyping in multisite registry data identifies genotype–phenotype associations in CHD patients with abnormal CMA." @default.
• W4386529895 created "2023-09-09" @default.
• W4386529895 creator A5015133630 @default.
• W4386529895 creator A5015873072 @default.
• W4386529895 creator A5020642145 @default.
• W4386529895 creator A5025577932 @default.
• W4386529895 creator A5032091928 @default.
• W4386529895 creator A5033405102 @default.
• W4386529895 creator A5038288914 @default.
• W4386529895 creator A5041497712 @default.
• W4386529895 creator A5052643697 @default.
• W4386529895 creator A5054050193 @default.
• W4386529895 creator A5058229103 @default.
• W4386529895 creator A5068661649 @default.
• W4386529895 creator A5076957619 @default.
• W4386529895 creator A5077397741 @default.
• W4386529895 creator A5087438813 @default.
• W4386529895 creator A5090317029 @default.
• W4386529895 date "2023-09-19" @default.
• W4386529895 modified "2023-10-16" @default.
• W4386529895 title "A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease" @default.
• W4386529895 cites W1870923374 @default.
• W4386529895 cites W1966324206 @default.
• W4386529895 cites W1985630557 @default.
• W4386529895 cites W1992917791 @default.
• W4386529895 cites W2010581545 @default.
• W4386529895 cites W2022494390 @default.
• W4386529895 cites W2044137549 @default.
• W4386529895 cites W2046996951 @default.
• W4386529895 cites W2061093976 @default.
• W4386529895 cites W2079115556 @default.
• W4386529895 cites W2079531131 @default.
• W4386529895 cites W2079666339 @default.
• W4386529895 cites W2091831410 @default.
• W4386529895 cites W2098380802 @default.
• W4386529895 cites W2124649657 @default.
• W4386529895 cites W2125141283 @default.
• W4386529895 cites W2127857992 @default.
• W4386529895 cites W2131587128 @default.
• W4386529895 cites W2144316033 @default.
• W4386529895 cites W2147543192 @default.
• W4386529895 cites W2148375722 @default.
• W4386529895 cites W2162347038 @default.
• W4386529895 cites W2238514531 @default.
• W4386529895 cites W2243984430 @default.
• W4386529895 cites W2737959494 @default.
• W4386529895 cites W2762553542 @default.
• W4386529895 cites W2767042238 @default.
• W4386529895 cites W2804836377 @default.
• W4386529895 cites W2901940932 @default.
• W4386529895 cites W2944434778 @default.
• W4386529895 cites W2947453525 @default.
• W4386529895 cites W3040166618 @default.
• W4386529895 cites W3082735129 @default.
• W4386529895 cites W3109437984 @default.
• W4386529895 cites W3116839667 @default.
• W4386529895 cites W4297964789 @default.
• W4386529895 doi "https://doi.org/10.1161/jaha.123.029340" @default.
• W4386529895 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37681527" @default.
• W4386529895 hasPublicationYear "2023" @default.
• W4386529895 type Work @default.
• W4386529895 citedByCount "0" @default.
• W4386529895 crossrefType "journal-article" @default.
• W4386529895 hasAuthorship W4386529895A5015133630 @default.
• W4386529895 hasAuthorship W4386529895A5015873072 @default.
• W4386529895 hasAuthorship W4386529895A5020642145 @default.
• W4386529895 hasAuthorship W4386529895A5025577932 @default.
• W4386529895 hasAuthorship W4386529895A5032091928 @default.
• W4386529895 hasAuthorship W4386529895A5033405102 @default.
• W4386529895 hasAuthorship W4386529895A5038288914 @default.
• W4386529895 hasAuthorship W4386529895A5041497712 @default.
• W4386529895 hasAuthorship W4386529895A5052643697 @default.
• W4386529895 hasAuthorship W4386529895A5054050193 @default.
• W4386529895 hasAuthorship W4386529895A5058229103 @default.
• W4386529895 hasAuthorship W4386529895A5068661649 @default.
• W4386529895 hasAuthorship W4386529895A5076957619 @default.
• W4386529895 hasAuthorship W4386529895A5077397741 @default.
• W4386529895 hasAuthorship W4386529895A5087438813 @default.
• W4386529895 hasAuthorship W4386529895A5090317029 @default.
• W4386529895 hasBestOaLocation W43865298951 @default.
• W4386529895 hasConcept C104317684 @default.
• W4386529895 hasConcept C106208931 @default.
• W4386529895 hasConcept C118552586 @default.
• W4386529895 hasConcept C120821319 @default.
• W4386529895 hasConcept C126322002 @default.
• W4386529895 hasConcept C127716648 @default.
• W4386529895 hasConcept C135763542 @default.
• W4386529895 hasConcept C141231307 @default.
• W4386529895 hasConcept C150194340 @default.
• W4386529895 hasConcept C153209595 @default.
• W4386529895 hasConcept C186413461 @default.
• W4386529895 hasConcept C186836561 @default.
• W4386529895 hasConcept C200844832 @default.
• W4386529895 hasConcept C2779134260 @default.
• W4386529895 hasConcept C2780074459 @default.
• W4386529895 hasConcept C2780673598 @default.
• W4386529895 hasConcept C50965678 @default.
• W4386529895 hasConcept C54355233 @default.
• W4386529895 hasConcept C60644358 @default.
• W4386529895 hasConcept C69991583 @default.

• next