Literature DB >> 23109160

Exome sequencing for gene discovery: time does not stand still.

Mark S LeDoux.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 23109160      PMCID： PMC3490435          DOI： 10.1002/ana.23660

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  6 in total

1.  Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns.

Authors:  Adele A Mitchell; Michael E Zwick; Aravinda Chakravarti; David J Cutler
Journal:  Bioinformatics       Date:  2004-02-05       Impact factor: 6.937

2.  The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.

Authors:  Jianfeng Xiao; Yu Zhao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Samer D Tabbal; Morvarid Karimi; Randal C Paniello; Zbigniew K Wszolek; Ryan J Uitti; Jay A Van Gerpen; David K Simon; Daniel Tarsy; Peter Hedera; Daniel D Truong; Karen P Frei; Andrew Blitzer; Monika Rudzińska; Ronald F Pfeiffer; Carrie Le; Mark S LeDoux
Journal:  Mov Disord       Date:  2011-03-02       Impact factor: 10.338

3.  Mutations in CIZ1 cause adult onset primary cervical dystonia.

Authors:  Jianfeng Xiao; Ryan J Uitti; Yu Zhao; Satya R Vemula; Joel S Perlmutter; Zbigniew K Wszolek; Demetrius M Maraganore; Georg Auburger; Barbara Leube; Katja Lehnhoff; Mark S LeDoux
Journal:  Ann Neurol       Date:  2012-03-23       Impact factor: 10.422

4.  A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Authors:  Philip Seibler; Ana Djarmati; Brigitte Langpap; Johann Hagenah; Alexander Schmidt; Norbert Brüggemann; Hartwig Siebner; Hans-Christian Jabusch; Eckart Altenmüller; Alexander Münchau; Katja Lohmann; Christine Klein
Journal:  Lancet Neurol       Date:  2008-05       Impact factor: 44.182

5.  Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies.

Authors:  Lucia Musumeci; Jonathan W Arthur; Florence S G Cheung; Ashraful Hoque; Scott Lippman; Juergen K V Reichardt
Journal:  Hum Mutat       Date:  2010-01       Impact factor: 4.878

6.  Clinical findings of a myoclonus-dystonia family with two distinct mutations.

Authors:  D Doheny; F Danisi; C Smith; C Morrison; M Velickovic; D De Leon; S B Bressman; J Leung; L Ozelius; C Klein; X O Breakefield; M F Brin; J M Silverman
Journal:  Neurology       Date:  2002-10-22       Impact factor: 9.910
  6 in total
  3 in total

Review 1.  Recent advances in the genetics of dystonia.

Authors:  Jianfeng Xiao; Satya R Vemula; Mark S LeDoux
Journal:  Curr Neurol Neurosci Rep       Date:  2014-08       Impact factor: 5.081

2.  A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.

Authors:  Satya R Vemula; Jianfeng Xiao; Yu Zhao; Robert W Bastian; Joel S Perlmutter; Brad A Racette; Randal C Paniello; Zbigniew K Wszolek; Ryan J Uitti; Jay A Van Gerpen; Peter Hedera; Daniel D Truong; Andrew Blitzer; Monika Rudzińska; Dragana Momčilović; Hyder A Jinnah; Karen Frei; Ronald F Pfeiffer; Mark S LeDoux
Journal:  Mol Genet Genomic Med       Date:  2014-02-11       Impact factor: 2.183

Review 3.  Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.

Authors:  Gholson J Lyon; Jeremy P Segal
Journal:  Appl Transl Genom       Date:  2013-02-26
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.