Literature DB >> 23775934

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Elliott H Sherr1, David J Michelson, Michael I Shevell, John B Moeschler, Andrea L Gropman, Stephen Ashwal.   

Abstract

Genetic testing for intellectual disability, global developmental delay and other neurodevelopmental disorders has advanced considerably in the last five to ten years and can be an important diagnostic tool for clinicians. This article provides a clinical and ethical framework for understanding these advances, future directions and the current limitations of these approaches.
© 2013 American Neurological Association.

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Year:  2013        PMID: 23775934     DOI: 10.1002/ana.23950

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   11.274


  5 in total

1.  Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

Authors:  Edda Haberlandt; Sibylle Zotter; Martina Witsch-Baumgartner; Johannes Zschocke; Dieter Kotzot
Journal:  Eur J Pediatr       Date:  2014-07-17       Impact factor: 3.183

2.  Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.

Authors:  Iris Jaitovich Groisman; Thierry Hurlimann; Amir Shoham; Béatrice Godard
Journal:  Eur J Hum Genet       Date:  2017-05-10       Impact factor: 4.246

Review 3.  Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

Authors:  J J O'Byrne; S A Lynch; E P Treacy; M D King; D R Betts; P D Mayne; F Sharif
Journal:  Ir J Med Sci       Date:  2015-04-21       Impact factor: 1.568

4.  Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.

Authors:  José Guevara-Campos; Lucía González-Guevara; Omar Cauli
Journal:  Int J Mol Sci       Date:  2015-02-11       Impact factor: 5.923

Review 5.  Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.

Authors:  Joanne L Doherty; Michael J Owen
Journal:  Genome Med       Date:  2014-04-28       Impact factor: 11.117

  5 in total

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