Literature DB >> 26972591

Human genetics: Loss-of-function variants--not always what they seem.

Darren J Burgess.   

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Year:  2016        PMID： 26972591     DOI： 10.1038/nrg.2016.33

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  2 in total

Review 1.  Estimating the mutation load in human genomes.

Authors:  Brenna M Henn; Laura R Botigué; Carlos D Bustamante; Andrew G Clark; Simon Gravel
Journal:  Nat Rev Genet       Date:  2015-05-12       Impact factor: 53.242

2.  Health and population effects of rare gene knockouts in adult humans with related parents.

Authors:  Vagheesh M Narasimhan; Karen A Hunt; Dan Mason; Christopher L Baker; Konrad J Karczewski; Michael R Barnes; Anthony H Barnett; Chris Bates; Srikanth Bellary; Nicholas A Bockett; Kristina Giorda; Christopher J Griffiths; Harry Hemingway; Zhilong Jia; M Ann Kelly; Hajrah A Khawaja; Monkol Lek; Shane McCarthy; Rosie McEachan; Anne O'Donnell-Luria; Kenneth Paigen; Constantinos A Parisinos; Eamonn Sheridan; Laura Southgate; Louise Tee; Mark Thomas; Yali Xue; Michael Schnall-Levin; Petko M Petkov; Chris Tyler-Smith; Eamonn R Maher; Richard C Trembath; Daniel G MacArthur; John Wright; Richard Durbin; David A van Heel
Journal:  Science       Date:  2016-03-03       Impact factor: 47.728
  2 in total
  2 in total

1.  Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.

Authors:  Yanjie Yu; Yingni Lin; Yuto Takasaki; Chenyao Wang; Hiroki Kimura; Jingrui Xing; Kanako Ishizuka; Miho Toyama; Itaru Kushima; Daisuke Mori; Yuko Arioka; Yota Uno; Tomoko Shiino; Yukako Nakamura; Takashi Okada; Mako Morikawa; Masashi Ikeda; Nakao Iwata; Yuko Okahisa; Manabu Takaki; Shinji Sakamoto; Toshiyuki Someya; Jun Egawa; Masahide Usami; Masaki Kodaira; Akira Yoshimi; Tomoko Oya-Ito; Branko Aleksic; Kinji Ohno; Norio Ozaki
Journal:  Transl Psychiatry       Date:  2018-01-10       Impact factor: 6.222

2.  Weighted Protein Interaction Network Analysis of Frontotemporal Dementia.

Authors:  Raffaele Ferrari; Ruth C Lovering; John Hardy; Patrick A Lewis; Claudia Manzoni
Journal:  J Proteome Res       Date:  2017-01-12       Impact factor: 4.466
  2 in total

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