Journal ArticleDOI
Diagnostic exome sequencing in persons with severe intellectual disability
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This article is published in Child Care Health and Development.The article was published on 2013-03-01. It has received 248 citations till now. The article focuses on the topics: Exome sequencing & Intellectual disability.read more
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Journal ArticleDOI
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher,Daniela Witten,Preti Jain,Brian J. O'Roak,Brian J. O'Roak,Gregory M. Cooper,Jay Shendure +6 more
TL;DR: The ability of CADD to prioritize functional, deleterious and pathogenic variants across many functional categories, effect sizes and genetic architectures is unmatched by any current single-annotation method.
Journal ArticleDOI
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang,Donna M. Muzny,Jeffrey G. Reid,Matthew N. Bainbridge,Alecia Willis,Patricia A. Ward,Alicia Braxton,Joke Beuten,Fan Xia,Zhiyv Niu,Matthew T. Hardison,Richard E. Person,Mir Reza Bekheirnia,Magalie S. Leduc,Amelia Kirby,Peter Pham,Jennifer Scull,Min Wang,Yan Ding,Sharon E. Plon,James R. Lupski,Arthur L. Beaudet,Richard A. Gibbs,Christine M. Eng +23 more
TL;DR: W whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition.
Journal ArticleDOI
De novo mutations in schizophrenia implicate synaptic networks
Menachem Fromer,Andrew Pocklington,David J. Kavanagh,Hywel Williams,Sarah Dwyer,Padhraig Gormley,Lyudmila Georgieva,Elliott Rees,Priit Palta,Douglas M. Ruderfer,Noa Carrera,Isla Humphreys,Jessica S. Johnson,Panos Roussos,Douglas Barker,Eric Banks,Vihra Milanova,Seth G. N. Grant,Eilis Hannon,Samuel A. Rose,Kimberly Chambert,Milind Mahajan,Edward M. Scolnick,Jennifer L. Moran,George Kirov,Aarno Palotie,Steven A. McCarroll,Peter Holmans,Pamela Sklar,Michael John Owen,Shaun Purcell,Michael Conlon O'Donovan +31 more
TL;DR: Genes affected by mutations in schizophrenia overlap those mutated in autism and intellectual disability, as do mutation-enriched synaptic pathways, and pathophysiology shared with other neurodevelopmental disorders.
Journal ArticleDOI
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen,Jayne Y. Hehir-Kwa,Djie Tjwan Thung,Maartje van de Vorst,Bregje W.M. van Bon,Marjolein H. Willemsen,Michael Kwint,Irene M. Janssen,Alexander Hoischen,Annette Schenck,Richard Leach,Robert C. Klein,Rick Tearle,Tan Bo,Rolph Pfundt,Helger G. Yntema,Bert B.A. de Vries,Tjitske Kleefstra,Han G. Brunner,Lisenka E.L.M. Vissers,Joris A. Veltman +20 more
TL;DR: Genome sequencing can be applied as a single genetic test to reliably identify and characterize the comprehensive spectrum of genetic variation, providing a genetic diagnosis in the majority of patients with severe ID.
Journal ArticleDOI
Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
Neelroop N. Parikshak,Rui Luo,Alice Zhang,Hyejung Won,Jennifer K. Lowe,Vijayendran Chandran,Steve Horvath,Daniel H. Geschwind +7 more
TL;DR: It is shown that the patterns of ASD and ID risk genes are distinct, providing a biological framework for further investigating the pathophysiology of ASD.
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