Literature DB >> 25850059

Genetic variation and alternative splicing.

Xavier Estivill1.   

Abstract

Mesh：

Year:  2015        PMID： 25850059     DOI： 10.1038/nbt.3195

Source DB:  PubMed          Journal:  Nat Biotechnol        ISSN： 1087-0156            Impact factor:   54.908


× No keyword cloud information.
  10 in total

1.  The evolution of gene expression levels in mammalian organs.

Authors:  David Brawand; Magali Soumillon; Anamaria Necsulea; Philippe Julien; Gábor Csárdi; Patrick Harrigan; Manuela Weier; Angélica Liechti; Ayinuer Aximu-Petri; Martin Kircher; Frank W Albert; Ulrich Zeller; Philipp Khaitovich; Frank Grützner; Sven Bergmann; Rasmus Nielsen; Svante Pääbo; Henrik Kaessmann
Journal:  Nature       Date:  2011-10-19       Impact factor: 49.962

2.  An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex.

Authors:  Ye Zhang; Kenian Chen; Steven A Sloan; Mariko L Bennett; Anja R Scholze; Sean O'Keeffe; Hemali P Phatnani; Paolo Guarnieri; Christine Caneda; Nadine Ruderisch; Shuyun Deng; Shane A Liddelow; Chaolin Zhang; Richard Daneman; Tom Maniatis; Ben A Barres; Jian Qian Wu
Journal:  J Neurosci       Date:  2014-09-03       Impact factor: 6.167

3.  Analysis and design of RNA sequencing experiments for identifying isoform regulation.

Authors:  Yarden Katz; Eric T Wang; Edoardo M Airoldi; Christopher B Burge
Journal:  Nat Methods       Date:  2010-11-07       Impact factor: 28.547

4.  A highly conserved program of neuronal microexons is misregulated in autistic brains.

Authors:  Manuel Irimia; Robert J Weatheritt; Jonathan D Ellis; Neelroop N Parikshak; Thomas Gonatopoulos-Pournatzis; Mariana Babor; Mathieu Quesnel-Vallières; Javier Tapial; Bushra Raj; Dave O'Hanlon; Miriam Barrios-Rodiles; Michael J E Sternberg; Sabine P Cordes; Frederick P Roth; Jeffrey L Wrana; Daniel H Geschwind; Benjamin J Blencowe
Journal:  Cell       Date:  2014-12-18       Impact factor: 41.582

5.  Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Authors:  E Ars; E Serra; J García; H Kruyer; A Gaona; C Lázaro; X Estivill
Journal:  Hum Mol Genet       Date:  2000-01-22       Impact factor: 6.150

6.  Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

Authors:  M Chillón; T Casals; B Mercier; L Bassas; W Lissens; S Silber; M C Romey; J Ruiz-Romero; C Verlingue; M Claustres
Journal:  N Engl J Med       Date:  1995-06-01       Impact factor: 91.245

7.  A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

Authors:  M Chillón; T Dörk; T Casals; J Giménez; N Fonknechten; K Will; D Ramos; V Nunes; X Estivill
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

8.  RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Authors:  Hui Y Xiong; Babak Alipanahi; Leo J Lee; Hannes Bretschneider; Daniele Merico; Ryan K C Yuen; Yimin Hua; Serge Gueroussov; Hamed S Najafabadi; Timothy R Hughes; Quaid Morris; Yoseph Barash; Adrian R Krainer; Nebojsa Jojic; Stephen W Scherer; Benjamin J Blencowe; Brendan J Frey
Journal:  Science       Date:  2014-12-18       Impact factor: 47.728

9.  Challenges in estimating percent inclusion of alternatively spliced junctions from RNA-seq data.

Authors:  Boyko Kakaradov; Hui Yuan Xiong; Leo J Lee; Nebojsa Jojic; Brendan J Frey
Journal:  BMC Bioinformatics       Date:  2012-04-19       Impact factor: 3.169

10.  Transcriptome and genome sequencing uncovers functional variation in humans.

Authors:  Tuuli Lappalainen; Michael Sammeth; Marc R Friedländer; Peter A C 't Hoen; Jean Monlong; Manuel A Rivas; Mar Gonzàlez-Porta; Natalja Kurbatova; Thasso Griebel; Pedro G Ferreira; Matthias Barann; Thomas Wieland; Liliana Greger; Maarten van Iterson; Jonas Almlöf; Paolo Ribeca; Irina Pulyakhina; Daniela Esser; Thomas Giger; Andrew Tikhonov; Marc Sultan; Gabrielle Bertier; Daniel G MacArthur; Monkol Lek; Esther Lizano; Henk P J Buermans; Ismael Padioleau; Thomas Schwarzmayr; Olof Karlberg; Halit Ongen; Helena Kilpinen; Sergi Beltran; Marta Gut; Katja Kahlem; Vyacheslav Amstislavskiy; Oliver Stegle; Matti Pirinen; Stephen B Montgomery; Peter Donnelly; Mark I McCarthy; Paul Flicek; Tim M Strom; Hans Lehrach; Stefan Schreiber; Ralf Sudbrak; Angel Carracedo; Stylianos E Antonarakis; Robert Häsler; Ann-Christine Syvänen; Gert-Jan van Ommen; Alvis Brazma; Thomas Meitinger; Philip Rosenstiel; Roderic Guigó; Ivo G Gut; Xavier Estivill; Emmanouil T Dermitzakis
Journal:  Nature       Date:  2013-09-15       Impact factor: 49.962
  10 in total
  2 in total

1.  Using Synthetic Mouse Spike-In Transcripts to Evaluate RNA-Seq Analysis Tools.

Authors:  Dena Leshkowitz; Ester Feldmesser; Gilgi Friedlander; Ghil Jona; Elena Ainbinder; Yisrael Parmet; Shirley Horn-Saban
Journal:  PLoS One       Date:  2016-04-21       Impact factor: 3.240

Review 2.  Diagnosing rare diseases after the exome.

Authors:  Laure Frésard; Stephen B Montgomery
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-12-17
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.