Literature DB >> 24267646

Diagnostic exome sequencing: a new paradigm in neurology.

Norman Delanty1, David B Goldstein.   

Abstract

Genomic tools have evolved with remarkable rapidity, but their clinical relevance and application have lagged behind. Now, consistent clinical applications have finally arrived and bring with them the promise of identifying the underlying causes of complex neurological disorders in a patient-specific manner.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID： 24267646     DOI： 10.1016/j.neuron.2013.09.011

Source DB:  PubMed          Journal:  Neuron        ISSN： 0896-6273            Impact factor:   17.173


  7 in total

Review 1.  The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Authors:  Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin
Journal:  Genet Res (Camb)       Date:  2015-09-14       Impact factor: 1.588

Review 2.  Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies.

Authors:  Ryan S Dhindsa; David B Goldstein
Journal:  Curr Neurol Neurosci Rep       Date:  2015-10       Impact factor: 5.081

3.  Loss of ACOT7 potentiates seizures and metabolic dysfunction.

Authors:  Caitlyn E Bowman; Ebru S Selen Alpergin; Jessica M Ellis; Michael J Wolfgang
Journal:  Am J Physiol Endocrinol Metab       Date:  2019-04-30       Impact factor: 4.310

Review 4.  Recent developments in dystonia.

Authors:  Hyder A Jinnah; Jan K Teller; Wendy R Galpern
Journal:  Curr Opin Neurol       Date:  2015-08       Impact factor: 5.710

Review 5.  An approach to pediatric exome and genome sequencing.

Authors:  Leslie G Biesecker; Barbara B Biesecker
Journal:  Curr Opin Pediatr       Date:  2014-12       Impact factor: 2.856

6.  Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Authors:  Mark B Consugar; Daniel Navarro-Gomez; Emily M Place; Kinga M Bujakowska; Maria E Sousa; Zoë D Fonseca-Kelly; Daniel G Taub; Maria Janessian; Dan Yi Wang; Elizabeth D Au; Katherine B Sims; David A Sweetser; Anne B Fulton; Qin Liu; Janey L Wiggs; Xiaowu Gai; Eric A Pierce
Journal:  Genet Med       Date:  2014-11-20       Impact factor: 8.822

7.  A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference.

Authors:  Adam Cornish; Chittibabu Guda
Journal:  Biomed Res Int       Date:  2015-10-11       Impact factor: 3.411
  7 in total

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