Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00896-5
Abstract: Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES).… read more here.
Keywords: trio based; exome sequencing; analysis; trio ... See more keywords
Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing
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DOI: 10.1111/brv.12383
Abstract: Whole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge… read more here.
Keywords: trio based; whole exome; novo germline; identification ... See more keywords
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report
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DOI: 10.3892/mmr.2023.12997
Abstract: Pathogenic variants affecting the BLM gene are responsible for the manifestation of extremely rare cancer-predisposing Bloom syndrome. The present study reports on a case of an infant with a congenital hypotrophy, short stature and abnormal… read more here.
Keywords: trio based; based exome; bloom syndrome; case ... See more keywords
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
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DOI: 10.7554/elife.78469
Abstract: Background De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods This study explored the potential added… read more here.
Keywords: trio based; retrospective cohort; patients suspected; whole exome ... See more keywords