Genome sequencing identifies major causes of severe intellectual disability

By C. Gilissen, J. Hehir-Kwa, Djie Tjwan Thung, M. Vorst, B. Bon, M. Willemsen, Michael Kwint, I. Janssen, A. Hoischen, A. Schenck and 11 more. Nature, 2014

1,118 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/acab10a6585900cb0d57da26dba92d61a6cdc250

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Citations in the corpus

Computational pan-genomics: status, promises and challenges (2016, background): “Mutations that are causal for rare Mendelian diseases have successfully been discovered during the past few years using whole exome and genome sequencing [50, 9].”
Guidelines for diagnostic next-generation sequencing (2015, methodology): “After this, exome sequencing is probably the most cost effective choice (even this may eventually be replaced by whole genome sequencing, see e.g. Gilissen et al. 2014).”
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population (2016, methodology): “Within URVs we defined variants that were: (1) disruptive, putative loss-of-function variants including premature stop codons, essential splice site mutations and frameshift indels; (2) damaging, missense variants classified as damaging by seven different in silico prediction algorithms and (3) nega”
Modelling learning and memory in Drosophila to understand Intellectual Disabilities. (2020, positive): “Furthermore, whole-exome sequencing (WES) and whole-genome sequencing (WGS) studies have led to the identification of de novo and inheritedvariantsplayingan important role in thepathogenesis of IDs (Hamdan et al., 2011, 2014; de Ligt et al., 2012; Gilissen et al., 2014; Lelieveld et al., 2016; Liu e”
Psychiatric Genomics: An Update and an Agenda (2017, background): “Genetic causes of severe intellectual disability (32), autism spectrum disorder (33, 34), and schizophrenia (35) include copy number variants (CNVs), inherited known recessives, and single-nucleotide variants (SNVs).”
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. (2016, background): “In addition to interrogating more of the non-coding genome, WGS also has better coverage, even in exome regions.(3) Therefore, WGS is best poised to investigate the relevance of nucleotide substitutions and other small non-coding variants (NCVs) inMendelian disease, but substantial obstacles remain.”
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015, background): “Additionally, whole-exome sequencing studies of other neurodevelopmental disorders have found enrichment for FMRP targets in rare mutations in schizophrenia 81 , intellectual disability 68 and epilepsy 78 .”