Intellectual disability genomics: current state, pitfalls and future challenges

N Maia, MJ Nabais Sá, M Melo-Pires, APM de Brouwer… - BMC genomics, 2021 - Springer
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

SH Lelieveld, MRF Reijnders, R Pfundt… - Nature …, 2016 - nature.com
To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

Genomics in neurodevelopmental disorders: an avenue to personalized medicine

DC Tărlungeanu, G Novarino - Experimental & molecular medicine, 2018 - nature.com
Despite the remarkable number of scientific breakthroughs of the last 100 years, the
treatment of neurodevelopmental disorders (eg, autism spectrum disorder, intellectual …

The use of next-generation sequencing for research and diagnostics for intellectual disability

R Harripaul, A Noor, M Ayub… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Genetic or genomic mutation is a major cause of intellectual disability (ID). However, despite
the generally anticipated strong genotype/phenotype correlation for ID, there are huge …

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

JHM Schuurs-Hoeijmakers… - Journal of medical …, 2013 - jmg.bmj.com
Background Intellectual disability (ID) is a common neurodevelopmental disorder affecting 1–
3% of the general population. Mutations in more than 10% of all human genes are …

De Novo Mutations in Moderate or Severe Intellectual Disability

FF Hamdan, M Srour, JM Capo-Chichi, H Daoud… - PLoS …, 2014 - journals.plos.org
Genetics is believed to have an important role in intellectual disability (ID). Recent studies
have emphasized the involvement of de novo mutations (DNMs) in ID but the extent to which …

Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules

K Kochinke, C Zweier, B Nijhof, M Fenckova… - The American Journal of …, 2016 - cell.com
Intellectual disability (ID) disorders are genetically and phenotypically extremely
heterogeneous. Can this complexity be depicted in a comprehensive way as a means of …

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

I Järvelä, T Määttä, A Acharya, J Leppälä… - Human Genetics, 2021 - Springer
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in
consanguineous families, however, founder populations may also be of interest to study …

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

T Tucker, FR Zahir, M Griffith, A Delaney… - European Journal of …, 2014 - nature.com
Intellectual disability affects about 3% of individuals globally, with∼ 50% idiopathic. We
designed an exonic-resolution array targeting all known submicroscopic chromosomal …

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

E Athanasakis, D Licastro, F Faletra… - American Journal of …, 2014 - Wiley Online Library
The identification of causes underlying intellectual disability (ID) is one of the most
demanding challenges for clinical Geneticists and Researchers. Despite molecular …