Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

Background Aetiological diagnosis in non‐syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. Methods Screening is currently achieved by chromosomal microarrays followed by whole‐exome sequencing (WES). In search for the aetiological yield of WES in patients wit...

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Veröffentlicht in:	Journal of intellectual disability research 2021-06, Vol.65 (6), p.577-588
Hauptverfasser:	Taşkıran, E. Z., Karaosmanoğlu, B., Koşukcu, C., Ürel‐Demir, G., Akgün‐Doğan, Ö., Şimşek‐Kiper, P. Ö., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Anatomy Behavior problems Central nervous system Chromosomes Consanguineous marriage consanguinity diagnostic yield Epilepsy Etiology Genes Inheritance Intellectual disabilities Intellectual Disability Medical diagnosis Medical screening Nervous system non‐syndromic intellectual disability Patients Phenotypes whole‐exome sequencing
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