Literature DB >> 30936463

The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients.

Malena P Pantou1, Polyxeni Gourzi2, Dimitrios Degiannis2.   

Abstract

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Year:  2019        PMID： 30936463      PMCID： PMC6777621          DOI： 10.1038/s41431-019-0389-2

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  6 in total

1.  Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.

Authors:  Conor M Lane; John R Giudicessi; Dan Ye; David J Tester; Ram K Rohatgi; J Martijn Bos; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2018-04-03       Impact factor: 6.343

Review 2.  Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Authors:  John R Giudicessi; Dan M Roden; Arthur A M Wilde; Michael J Ackerman
Journal:  Circulation       Date:  2018-02-06       Impact factor: 29.690

Review 3.  The genetic architecture of long QT syndrome: A critical reappraisal.

Authors:  John R Giudicessi; Arthur A M Wilde; Michael J Ackerman
Journal:  Trends Cardiovasc Med       Date:  2018-03-30       Impact factor: 6.677

4.  Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics.

Authors:  Linn Fagerberg; Björn M Hallström; Per Oksvold; Caroline Kampf; Dijana Djureinovic; Jacob Odeberg; Masato Habuka; Simin Tahmasebpoor; Angelika Danielsson; Karolina Edlund; Anna Asplund; Evelina Sjöstedt; Emma Lundberg; Cristina Al-Khalili Szigyarto; Marie Skogs; Jenny Ottosson Takanen; Holger Berling; Hanna Tegel; Jan Mulder; Peter Nilsson; Jochen M Schwenk; Cecilia Lindskog; Frida Danielsson; Adil Mardinoglu; Asa Sivertsson; Kalle von Feilitzen; Mattias Forsberg; Martin Zwahlen; IngMarie Olsson; Sanjay Navani; Mikael Huss; Jens Nielsen; Fredrik Ponten; Mathias Uhlén
Journal:  Mol Cell Proteomics       Date:  2013-12-05       Impact factor: 5.911

5.  Diversity of human copy number variation and multicopy genes.

Authors:  Peter H Sudmant; Jacob O Kitzman; Francesca Antonacci; Can Alkan; Maika Malig; Anya Tsalenko; Nick Sampas; Laurakay Bruhn; Jay Shendure; Evan E Eichler
Journal:  Science       Date:  2010-10-29       Impact factor: 47.728

6.  Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.

Authors:  Valerie A Schneider; Tina Graves-Lindsay; Kerstin Howe; Nathan Bouk; Hsiu-Chuan Chen; Paul A Kitts; Terence D Murphy; Kim D Pruitt; Françoise Thibaud-Nissen; Derek Albracht; Robert S Fulton; Milinn Kremitzki; Vincent Magrini; Chris Markovic; Sean McGrath; Karyn Meltz Steinberg; Kate Auger; William Chow; Joanna Collins; Glenn Harden; Timothy Hubbard; Sarah Pelan; Jared T Simpson; Glen Threadgold; James Torrance; Jonathan M Wood; Laura Clarke; Sergey Koren; Matthew Boitano; Paul Peluso; Heng Li; Chen-Shan Chin; Adam M Phillippy; Richard Durbin; Richard K Wilson; Paul Flicek; Evan E Eichler; Deanna M Church
Journal:  Genome Res       Date:  2017-04-10       Impact factor: 9.043
  6 in total

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