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Article

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.

American journal of medical genetics. Part A - 1 Nov 2022

Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema R

Abstract excerpt

Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1%-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke. We retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major...

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Exome
Exome Sequencing
Phenotype
Stroke

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36065636
DOI: 10.1002/ajmg.a.62967
PMCID: PMC9703357

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