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Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

1 Jan 2024

Abstract excerpt

Abstract This study aimed to determine the diagnostic yield of singleton exome sequencing and subsequent research-based trio exome analysis in children with a spectrum of brain malformations seen commonly in clinical practice. We recruited children ≤ 18 years old with a brain malformation diagnosed by magnetic resonance imaging and consistent with an established list of known genetic causes. Patients were...

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PMID: 38444904
DOI: 10.1093/braincomms/fcae056

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