Literature DB >> 19459881

Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities.

Kimbery A Aldinger1.   

Abstract

Entities:  

Year:  2009        PMID： 19459881     DOI： 10.1111/j.1399-0004.2009.01186_2.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

1.  Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Authors:  Erin L Heinzen; Chantal Depondt; Gianpiero L Cavalleri; Elizabeth K Ruzzo; Nicole M Walley; Anna C Need; Dongliang Ge; Min He; Elizabeth T Cirulli; Qian Zhao; Kenneth D Cronin; Curtis E Gumbs; C Ryan Campbell; Linda K Hong; Jessica M Maia; Kevin V Shianna; Mark McCormack; Rodney A Radtke; Gerard D O'Conner; Mohamad A Mikati; William B Gallentine; Aatif M Husain; Saurabh R Sinha; Krishna Chinthapalli; Ram S Puranam; James O McNamara; Ruth Ottman; Sanjay M Sisodiya; Norman Delanty; David B Goldstein
Journal:  Am J Hum Genet       Date:  2012-08-02       Impact factor: 11.025
  1 in total

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