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Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10233
Abstract: Mutations in protein O‐mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome (WWS) and milder limb‐girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to…
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Keywords:
dystrophy;
limb girdle;
clinical exome;
girdle muscular ... See more keywords
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Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02178-8
Abstract: Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved in human genetic disorders, the…
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Keywords:
exome sequencing;
developmental disorders;
clinical exome;
trio ... See more keywords
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Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103903
Abstract: Human imprinting disorders cause a range of dysmorphic and neurocognitive phenotypes, and they may elude traditional molecular diagnosis such exome sequencing. The discovery of novel disorders related to imprinted genes has lagged behind traditional Mendelian…
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Keywords:
exome sequencing;
imprinted genes;
clinical exome;
conservation ... See more keywords
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Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00964-0
Abstract: Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during…
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Keywords:
exome sequencing;
clinical exome;
ufs identified;
unsolicited findings ... See more keywords
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Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0142
Abstract: Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND). Methods: We analyzed two Chinese families with ND at molecular level through clinical exome sequencing and the variations were identified…
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Keywords:
two chinese;
clinical exome;
ndp gene;
chinese families ... See more keywords
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Published in 2020 at "Clinical chemistry"
DOI: 10.1093/clinchem.2019.306795
Abstract: BACKGROUND Exome sequencing has become a commonly used clinical diagnostic test. Multiple studies have examined the diagnostic utility and individual laboratory performance of exome testing; however, no previous study has surveyed and compared the data…
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Keywords:
studies inconsistent;
exome studies;
exome;
clinical exome ... See more keywords
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Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14262
Abstract: We examined the utility of clinical and research processes in the reanalysis of publicly‐funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases…
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Keywords:
sequencing data;
clinical exome;
exome sequencing;
ontario canada ... See more keywords
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Published in 2018 at "Life Sciences, Society and Policy"
DOI: 10.1186/s40504-018-0081-2
Abstract: BackgroundThe decreasing cost of next-generation sequencing technologies (NGS) has resulted in their increased use in research, and in the clinic. However, France and Quebec have not yet implemented nation-wide personalized medicine programs using NGS. To…
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Keywords:
france quebec;
medicine;
exome sequencing;
clinical exome ... See more keywords
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Published in 2020 at "Translational pediatrics"
DOI: 10.21037/tp.2019.12.02
Abstract: Background FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited…
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Keywords:
exome sequencing;
flnc variants;
infant patients;
early diagnosis ... See more keywords
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Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.956723
Abstract: Background: Next-generation sequencing-based genetic testing represents a great opportunity to identify hereditary predispositions to specific pathological conditions and to promptly implement health surveillance or therapeutic protocols in case of disease. The term secondary finding refers…
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Keywords:
medically actionable;
clinical exome;
based panel;
exome based ... See more keywords
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Published in 2021 at "Neurology India"
DOI: 10.4103/0028-3886.333475
Abstract: Background: Neurological diseases are phenotypically and genotypically heterogeneous. Clinical exome sequencing (CES) has been shown to provide a high diagnostic yield for these disorders in the European population but remains to be demonstrated for the…
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Keywords:
indian population;
clinical exome;
diagnosis;
population ... See more keywords