High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Author:

Martínez Francisco,Caro-Llopis Alfonso,Roselló Mónica,Oltra Silvestre,Mayo Sonia,Monfort Sandra,Orellana Carmen

Funder

Instituto de Salud Carlos III

Fundación Alicia Koplowitz

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms;Srivastava;Neurosci Biobehav Rev,2014

2. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation;Rauch;Am J Med Genet A,2006

3. Genetic and epigenetic networks in intellectual disabilities;van Bokhoven;Annu Rev Genet,2011

4. Genetics of recessive cognitive disorders;Musante;Trends Genet,2014

5. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010

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