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Article

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2020

Rentas Stefan, Rathi Komal S, Kaur Maninder, Raman Pichai, Krantz Ian D, Sarmady Mahdi, Tayoun Ahmad Abou

Abstract excerpt

PURPOSE: Neurodevelopmental disorders represent a frequent indication for clinical exome sequencing. Fifty percent of cases, however, remain undiagnosed even upon exome reanalysis. Here we show RNA sequencing (RNA-seq) on human B-lymphoblastoid cell lines (LCL) is highly suitable for neurodevelopmental Mendelian gene testing and demonstrate the utility of this approach in suspected cases of Cornelia de Lange...

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PMID: 31911672
DOI: 10.1038/s41436-019-0741-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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