Literature DB >> 25849167

Exome sequencing comes to the clinic.

Ricki Lewis.   

Abstract

Mesh:

Year:  2015        PMID: 25849167     DOI: 10.1001/jama.2015.1389

Source DB:  PubMed          Journal:  JAMA        ISSN: 0098-7484            Impact factor:   56.272


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  3 in total

1.  The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:  Jacob C Ulirsch; Jeffrey M Verboon; Shideh Kazerounian; Michael H Guo; Daniel Yuan; Leif S Ludwig; Robert E Handsaker; Nour J Abdulhay; Claudia Fiorini; Giulio Genovese; Elaine T Lim; Aaron Cheng; Beryl B Cummings; Katherine R Chao; Alan H Beggs; Casie A Genetti; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Adrianna Vlachos; Jeffrey M Lipton; Eva Atsidaftos; Bertil Glader; Anupama Narla; Pierre-Emmanuel Gleizes; Marie-Françoise O'Donohue; Nathalie Montel-Lehry; David J Amor; Steven A McCarroll; Anne H O'Donnell-Luria; Namrata Gupta; Stacey B Gabriel; Daniel G MacArthur; Eric S Lander; Monkol Lek; Lydie Da Costa; David G Nathan; Andrei A Korostelev; Ron Do; Vijay G Sankaran; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2018-11-29       Impact factor: 11.025

2.  Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy.

Authors:  Richard J Alsop; Asfia Soomro; Yuchen Zhang; Marc Pieterse; Ayodele Fatona; Kimberly Dej; Maikel C Rheinstädter
Journal:  PLoS One       Date:  2016-03-16       Impact factor: 3.240

3.  Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Authors:  Xiao Mao; Kai Li; Beisha Tang; Yang Luo; Dongxue Ding; Yuwen Zhao; Chunrong Wang; Xiaoting Zhou; Zhenhua Liu; Yuan Zhang; Puzhi Wang; Qian Xu; Qiying Sun; Kun Xia; Xinxiang Yan; Hong Jiang; Shen Lu; Jifeng Guo
Journal:  Sci Rep       Date:  2017-05-09       Impact factor: 4.379

  3 in total

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