Literature DB >> 27065009

Superheroes of disease resistance.

Daniel MacArthur1.   

Abstract

Mesh:

Year:  2016        PMID: 27065009     DOI: 10.1038/nbt.3555

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


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  5 in total

1.  Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Authors:  Jason Flannick; Nicola L Beer; Alexander G Bick; Vineeta Agarwala; Janne Molnes; Namrata Gupta; Noël P Burtt; Jose C Florez; James B Meigs; Herman Taylor; Valeriya Lyssenko; Henrik Irgens; Ervin Fox; Frank Burslem; Stefan Johansson; M Julia Brosnan; Jeff K Trimmer; Christopher Newton-Cheh; Tiinamaija Tuomi; Anders Molven; James G Wilson; Christopher J O'Donnell; Sekar Kathiresan; Joel N Hirschhorn; Pål R Njølstad; Tim Rolph; J G Seidman; Stacey Gabriel; David R Cox; Christine E Seidman; Leif Groop; David Altshuler
Journal:  Nat Genet       Date:  2013-10-06       Impact factor: 38.330

2.  Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Authors:  Rong Chen; Lisong Shi; Jörg Hakenberg; Brian Naughton; Pamela Sklar; Jianguo Zhang; Hanlin Zhou; Lifeng Tian; Om Prakash; Mathieu Lemire; Patrick Sleiman; Wei-Yi Cheng; Wanting Chen; Hardik Shah; Yulan Shen; Menachem Fromer; Larsson Omberg; Matthew A Deardorff; Elaine Zackai; Jason R Bobe; Elissa Levin; Thomas J Hudson; Leif Groop; Jun Wang; Hakon Hakonarson; Anne Wojcicki; George A Diaz; Lisa Edelmann; Eric E Schadt; Stephen H Friend
Journal:  Nat Biotechnol       Date:  2016-04-11       Impact factor: 54.908

3.  Quantifying prion disease penetrance using large population control cohorts.

Authors:  Eric Vallabh Minikel; Sonia M Vallabh; Monkol Lek; Karol Estrada; Kaitlin E Samocha; J Fah Sathirapongsasuti; Cory Y McLean; Joyce Y Tung; Linda P C Yu; Pierluigi Gambetti; Janis Blevins; Shulin Zhang; Yvonne Cohen; Wei Chen; Masahito Yamada; Tsuyoshi Hamaguchi; Nobuo Sanjo; Hidehiro Mizusawa; Yosikazu Nakamura; Tetsuyuki Kitamoto; Steven J Collins; Alison Boyd; Robert G Will; Richard Knight; Claudia Ponto; Inga Zerr; Theo F J Kraus; Sabina Eigenbrod; Armin Giese; Miguel Calero; Jesús de Pedro-Cuesta; Stéphane Haïk; Jean-Louis Laplanche; Elodie Bouaziz-Amar; Jean-Philippe Brandel; Sabina Capellari; Piero Parchi; Anna Poleggi; Anna Ladogana; Anne H O'Donnell-Luria; Konrad J Karczewski; Jamie L Marshall; Michael Boehnke; Markku Laakso; Karen L Mohlke; Anna Kähler; Kimberly Chambert; Steven McCarroll; Patrick F Sullivan; Christina M Hultman; Shaun M Purcell; Pamela Sklar; Sven J van der Lee; Annemieke Rozemuller; Casper Jansen; Albert Hofman; Robert Kraaij; Jeroen G J van Rooij; M Arfan Ikram; André G Uitterlinden; Cornelia M van Duijn; Mark J Daly; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2016-01-20       Impact factor: 17.956

4.  The penetrance of copy number variations for schizophrenia and developmental delay.

Authors:  George Kirov; Elliott Rees; James T R Walters; Valentina Escott-Price; Lyudmila Georgieva; Alexander L Richards; Kimberly D Chambert; Gerwyn Davies; Sophie E Legge; Jennifer L Moran; Steven A McCarroll; Michael C O'Donovan; Michael J Owen
Journal:  Biol Psychiatry       Date:  2013-08-28       Impact factor: 13.382

5.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

  5 in total
  2 in total

Review 1.  Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.

Authors:  Jacques S Beckmann; Daniel Lew
Journal:  Genome Med       Date:  2016-12-19       Impact factor: 11.117

Review 2.  The Impact of Traditional Food and Lifestyle Behavior on Epigenetic Burden of Chronic Disease.

Authors:  Mustapha U Imam; Maznah Ismail
Journal:  Glob Chall       Date:  2017-10-27
  2 in total

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