Literature DB >> 27504774

Deep phenotyping predicts Huntington's genotype.

Douglas M Ruderfer1, Joel T Dudley2.   

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Year:  2016        PMID: 27504774     DOI: 10.1038/nbt.3648

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


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  7 in total

Review 1.  CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.

Authors:  Douglas R Langbehn; Michael R Hayden; Jane S Paulsen
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-03-05       Impact factor: 3.568

2.  Identification of type 2 diabetes subgroups through topological analysis of patient similarity.

Authors:  Li Li; Wei-Yi Cheng; Benjamin S Glicksberg; Omri Gottesman; Ronald Tamler; Rong Chen; Erwin P Bottinger; Joel T Dudley
Journal:  Sci Transl Med       Date:  2015-10-28       Impact factor: 17.956

3.  Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.

Authors:  Vadim Alexandrov; Dani Brunner; Liliana B Menalled; Andrea Kudwa; Judy Watson-Johnson; Matthew Mazzella; Ian Russell; Melinda C Ruiz; Justin Torello; Emily Sabath; Ana Sanchez; Miguel Gomez; Igor Filipov; Kimberly Cox; Mei Kwan; Afshin Ghavami; Sylvie Ramboz; Brenda Lager; Vanessa C Wheeler; Jeff Aaronson; Jim Rosinski; James F Gusella; Marcy E MacDonald; David Howland; Seung Kwak
Journal:  Nat Biotechnol       Date:  2016-07-04       Impact factor: 54.908

4.  Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Authors:  Joshua C Denny; Lisa Bastarache; Marylyn D Ritchie; Robert J Carroll; Raquel Zink; Jonathan D Mosley; Julie R Field; Jill M Pulley; Andrea H Ramirez; Erica Bowton; Melissa A Basford; David S Carrell; Peggy L Peissig; Abel N Kho; Jennifer A Pacheco; Luke V Rasmussen; David R Crosslin; Paul K Crane; Jyotishman Pathak; Suzette J Bielinski; Sarah A Pendergrass; Hua Xu; Lucia A Hindorff; Rongling Li; Teri A Manolio; Christopher G Chute; Rex L Chisholm; Eric B Larson; Gail P Jarvik; Murray H Brilliant; Catherine A McCarty; Iftikhar J Kullo; Jonathan L Haines; Dana C Crawford; Daniel R Masys; Dan M Roden
Journal:  Nat Biotechnol       Date:  2013-12       Impact factor: 54.908

5.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

6.  Disruptive CHD8 mutations define a subtype of autism early in development.

Authors:  Raphael Bernier; Christelle Golzio; Bo Xiong; Holly A Stessman; Bradley P Coe; Osnat Penn; Kali Witherspoon; Jennifer Gerdts; Carl Baker; Anneke T Vulto-van Silfhout; Janneke H Schuurs-Hoeijmakers; Marco Fichera; Paolo Bosco; Serafino Buono; Antonino Alberti; Pinella Failla; Hilde Peeters; Jean Steyaert; Lisenka E L M Vissers; Ludmila Francescatto; Heather C Mefford; Jill A Rosenfeld; Trygve Bakken; Brian J O'Roak; Matthew Pawlus; Randall Moon; Jay Shendure; David G Amaral; Ed Lein; Julia Rankin; Corrado Romano; Bert B A de Vries; Nicholas Katsanis; Evan E Eichler
Journal:  Cell       Date:  2014-07-03       Impact factor: 41.582

7.  Behavioral signatures related to genetic disorders in autism.

Authors:  Jacob As Vorstman; Patrick F Bolton; Hilgo Bruining; Marinus Jc Eijkemans; Martien Jh Kas; Sarah R Curran
Journal:  Mol Autism       Date:  2014-02-11       Impact factor: 7.509

  7 in total
  1 in total

Review 1.  Nobel Turing Challenge: creating the engine for scientific discovery.

Authors:  Hiroaki Kitano
Journal:  NPJ Syst Biol Appl       Date:  2021-06-18
  1 in total

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