Literature DB >> 26620107

Key mendelian variants.

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Abstract

Genetic comparison of the effects of mutant and wild-type alleles is a powerful way to define gene function. But those few disease-causing variants that provide qualitatively different insights into the disease mechanisms of more common sporadic diseases have the greatest translational value.

Mesh：

Year:  2015        PMID： 26620107     DOI： 10.1038/ng.3463

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  4 in total

Review 1.  A probabilistic view of gene function.

Authors:  Andrew G Fraser; Edward M Marcotte
Journal:  Nat Genet       Date:  2004-06       Impact factor: 38.330

2.  A bubble popper.

Authors: 
Journal:  Nat Genet       Date:  2013-12       Impact factor: 38.330

3.  Human genome variation.

Authors: 
Journal:  Nat Genet       Date:  2014-11       Impact factor: 38.330

4.  Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:  Jenny C Taylor; Hilary C Martin; Stefano Lise; John Broxholme; Jean-Baptiste Cazier; Andy Rimmer; Alexander Kanapin; Gerton Lunter; Simon Fiddy; Chris Allan; A Radu Aricescu; Moustafa Attar; Christian Babbs; Jennifer Becq; David Beeson; Celeste Bento; Patricia Bignell; Edward Blair; Veronica J Buckle; Katherine Bull; Ondrej Cais; Holger Cario; Helen Chapel; Richard R Copley; Richard Cornall; Jude Craft; Karin Dahan; Emma E Davenport; Calliope Dendrou; Olivier Devuyst; Aimée L Fenwick; Jonathan Flint; Lars Fugger; Rodney D Gilbert; Anne Goriely; Angie Green; Ingo H Greger; Russell Grocock; Anja V Gruszczyk; Robert Hastings; Edouard Hatton; Doug Higgs; Adrian Hill; Chris Holmes; Malcolm Howard; Linda Hughes; Peter Humburg; David Johnson; Fredrik Karpe; Zoya Kingsbury; Usha Kini; Julian C Knight; Jonathan Krohn; Sarah Lamble; Craig Langman; Lorne Lonie; Joshua Luck; Davis McCarthy; Simon J McGowan; Mary Frances McMullin; Kerry A Miller; Lisa Murray; Andrea H Németh; M Andrew Nesbit; David Nutt; Elizabeth Ormondroyd; Annette Bang Oturai; Alistair Pagnamenta; Smita Y Patel; Melanie Percy; Nayia Petousi; Paolo Piazza; Sian E Piret; Guadalupe Polanco-Echeverry; Niko Popitsch; Fiona Powrie; Chris Pugh; Lynn Quek; Peter A Robbins; Kathryn Robson; Alexandra Russo; Natasha Sahgal; Pauline A van Schouwenburg; Anna Schuh; Earl Silverman; Alison Simmons; Per Soelberg Sørensen; Elizabeth Sweeney; John Taylor; Rajesh V Thakker; Ian Tomlinson; Amy Trebes; Stephen Rf Twigg; Holm H Uhlig; Paresh Vyas; Tim Vyse; Steven A Wall; Hugh Watkins; Michael P Whyte; Lorna Witty; Ben Wright; Chris Yau; David Buck; Sean Humphray; Peter J Ratcliffe; John I Bell; Andrew Om Wilkie; David Bentley; Peter Donnelly; Gilean McVean
Journal:  Nat Genet       Date:  2015-05-18       Impact factor: 38.330
  4 in total
  1 in total

1.  Identification of TMEM230 mutations in familial Parkinson's disease.

Authors:  Han-Xiang Deng; Yong Shi; Yi Yang; Kreshnik B Ahmeti; Nimrod Miller; Cao Huang; Lijun Cheng; Hong Zhai; Sheng Deng; Karen Nuytemans; Nicola J Corbett; Myung Jong Kim; Hao Deng; Beisha Tang; Ziquang Yang; Yanming Xu; Piu Chan; Bo Huang; Xiao-Ping Gao; Zhi Song; Zhenhua Liu; Faisal Fecto; Nailah Siddique; Tatiana Foroud; Joseph Jankovic; Bernardino Ghetti; Daniel A Nicholson; Dimitri Krainc; Onur Melen; Jeffery M Vance; Margaret A Pericak-Vance; Yong-Chao Ma; Ali H Rajput; Teepu Siddique
Journal:  Nat Genet       Date:  2016-06-06       Impact factor: 38.330
  1 in total

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