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Article

Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

American journal of medical genetics. Part A - 1 Jan 2014

Athanasakis Emmanouil, Licastro Danilo, Faletra Flavio, Fabretto Antonella, Dipresa Savina, Vozzi Diego, Morgan Anna, d'Adamo Adamo P, Pecile Vanna, Biarnés Xevi, Gasparini Paolo

Abstract excerpt

The identification of causes underlying intellectual disability (ID) is one of the most demanding challenges for clinical Geneticists and Researchers. Despite molecular diagnostics improvements, the vast majority of patients still remain without genetic diagnosis. Here, we report the results obtained using Whole Exome and Target Sequencing on nine patients affected by isolated ID without pathological copy number...

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PMID: 24307393
DOI: 10.1002/ajmg.a.36274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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