Literature DB >> 23020879

Genetic basis of intellectual disability.

Jay W Ellison1, Jill A Rosenfeld, Lisa G Shaffer.   

Abstract

In the past decade, we have witnessed a flood of reports about mutations that cause or contribute to intellectual disability (ID). This rapid progress has been driven in large part by the implementation of chromosomal microarray analysis and next-generation sequencing methods. The findings have revealed extensive genetic heterogeneity for ID, as well as examples of a common genetic etiology for ID and other neurobehavioral/psychiatric phenotypes. Clinical diagnostic application of these new findings is already well under way, despite incomplete understanding of non-Mendelian transmission patterns that are sometimes observed.

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Year:  2012        PMID: 23020879     DOI: 10.1146/annurev-med-042711-140053

Source DB:  PubMed          Journal:  Annu Rev Med        ISSN: 0066-4219            Impact factor:   13.739


  39 in total

1.  XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Authors:  Amélie Piton; Claire Redin; Jean-Louis Mandel
Journal:  Am J Hum Genet       Date:  2013-07-18       Impact factor: 11.025

2.  Next-generation sequencing in X-linked intellectual disability.

Authors:  Andreas Tzschach; Ute Grasshoff; Stefanie Beck-Woedl; Claudia Dufke; Claudia Bauer; Martin Kehrer; Christina Evers; Ute Moog; Barbara Oehl-Jaschkowitz; Nataliya Di Donato; Robert Maiwald; Christine Jung; Alma Kuechler; Solveig Schulz; Peter Meinecke; Stephanie Spranger; Jürgen Kohlhase; Jörg Seidel; Silke Reif; Manuela Rieger; Angelika Riess; Marc Sturm; Julia Bickmann; Christopher Schroeder; Andreas Dufke; Olaf Riess; Peter Bauer
Journal:  Eur J Hum Genet       Date:  2015-02-04       Impact factor: 4.246

3.  Exome Sequencing and the Management of Neurometabolic Disorders.

Authors:  Maja Tarailo-Graovac; Casper Shyr; Colin J Ross; Gabriella A Horvath; Ramona Salvarinova; Xin C Ye; Lin-Hua Zhang; Amit P Bhavsar; Jessica J Y Lee; Britt I Drögemöller; Mena Abdelsayed; Majid Alfadhel; Linlea Armstrong; Matthias R Baumgartner; Patricie Burda; Mary B Connolly; Jessie Cameron; Michelle Demos; Tammie Dewan; Janis Dionne; A Mark Evans; Jan M Friedman; Ian Garber; Suzanne Lewis; Jiqiang Ling; Rupasri Mandal; Andre Mattman; Margaret McKinnon; Aspasia Michoulas; Daniel Metzger; Oluseye A Ogunbayo; Bojana Rakic; Jacob Rozmus; Peter Ruben; Bryan Sayson; Saikat Santra; Kirk R Schultz; Kathryn Selby; Paul Shekel; Sandra Sirrs; Cristina Skrypnyk; Andrea Superti-Furga; Stuart E Turvey; Margot I Van Allen; David Wishart; Jiang Wu; John Wu; Dimitrios Zafeiriou; Leo Kluijtmans; Ron A Wevers; Patrice Eydoux; Anna M Lehman; Hilary Vallance; Sylvia Stockler-Ipsiroglu; Graham Sinclair; Wyeth W Wasserman; Clara D van Karnebeek
Journal:  N Engl J Med       Date:  2016-05-25       Impact factor: 91.245

Review 4.  Medication use and potentially inappropriate prescribing in older adults with intellectual disabilities: a neglected area of research.

Authors:  Maire O'Dwyer; Philip McCallion; Mary McCarron; Martin Henman
Journal:  Ther Adv Drug Saf       Date:  2018-06-20

5.  A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Authors:  Susan S Brooks; Alissa L Wall; Christelle Golzio; David W Reid; Amalia Kondyles; Jason R Willer; Christina Botti; Christopher V Nicchitta; Nicholas Katsanis; Erica E Davis
Journal:  Genetics       Date:  2014-10       Impact factor: 4.562

6.  Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.

Authors:  Asem M Alkhateeb; Samah K Aburahma; Wesal Habbab; I Richard Thompson
Journal:  Metab Brain Dis       Date:  2016-04-28       Impact factor: 3.584

7.  Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.

Authors:  Katrina Celis; Scott Shuldiner; Eden V Haverfield; Joshua Cappell; Rongze Yang; Da-Wei Gong; Wendy K Chung
Journal:  J Inherit Metab Dis       Date:  2015-03-03       Impact factor: 4.982

Review 8.  tRNA Metabolism and Neurodevelopmental Disorders.

Authors:  Ashleigh E Schaffer; Otis Pinkard; Jeffery M Coller
Journal:  Annu Rev Genomics Hum Genet       Date:  2019-05-13       Impact factor: 8.929

Review 9.  Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

Authors:  Carrie E Bearden; David C Glahn
Journal:  Neuropsychology       Date:  2017-11       Impact factor: 3.295

10.  A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Authors:  T Figueiredo; U S Melo; A L S Pessoa; P R Nobrega; J P Kitajima; H Rusch; F Vaz; L T Lucato; M Zatz; F Kok; S Santos
Journal:  Mol Psychiatry       Date:  2015-09-29       Impact factor: 15.992

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