Literature DB >> 23369291

2012 highlights in translational 'omics.

Charles Auffray1, Timothy Caulfield2, Muin J Khoury3, James R Lupski4, Matthias Schwab5, Timothy Veenstra6.   

Abstract

Entities:  

Year:  2013        PMID： 23369291      PMCID： PMC3707050          DOI： 10.1186/gm414

Source DB:  PubMed          Journal:  Genome Med        ISSN： 1756-994X            Impact factor:   11.117


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  28 in total

1.  Shattuck lecture--medical and societal consequences of the Human Genome Project.

Authors:  F S Collins
Journal:  N Engl J Med       Date:  1999-07-01       Impact factor: 91.245

2.  Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge.

Authors:  James P Evans; Jonathan S Berg
Journal:  JAMA       Date:  2011-12-07       Impact factor: 56.272

3.  Bring on the biomarkers.

Authors:  George Poste
Journal:  Nature       Date:  2011-01-13       Impact factor: 49.962

4.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:  Anita Rauch; Dagmar Wieczorek; Elisabeth Graf; Thomas Wieland; Sabine Endele; Thomas Schwarzmayr; Beate Albrecht; Deborah Bartholdi; Jasmin Beygo; Nataliya Di Donato; Andreas Dufke; Kirsten Cremer; Maja Hempel; Denise Horn; Juliane Hoyer; Pascal Joset; Albrecht Röpke; Ute Moog; Angelika Riess; Christian T Thiel; Andreas Tzschach; Antje Wiesener; Eva Wohlleber; Christiane Zweier; Arif B Ekici; Alexander M Zink; Andreas Rump; Christa Meisinger; Harald Grallert; Heinrich Sticht; Annette Schenck; Hartmut Engels; Gudrun Rappold; Evelin Schröck; Peter Wieacker; Olaf Riess; Thomas Meitinger; André Reis; Tim M Strom
Journal:  Lancet       Date:  2012-09-27       Impact factor: 79.321

5.  Robust analysis of the yeast proteome under 50 kDa by molecular-mass-based fractionation and top-down mass spectrometry.

Authors:  John F Kellie; Adam D Catherman; Kenneth R Durbin; John C Tran; Jeremiah D Tipton; Jeremy L Norris; Charles E Witkowski; Paul M Thomas; Neil L Kelleher
Journal:  Anal Chem       Date:  2011-12-14       Impact factor: 6.986

6.  Clinical diagnosis by whole-genome sequencing of a prenatal sample.

Authors:  Michael E Talkowski; Zehra Ordulu; Vamsee Pillalamarri; Carol B Benson; Ian Blumenthal; Susan Connolly; Carrie Hanscom; Naveed Hussain; Shahrin Pereira; Jonathan Picker; Jill A Rosenfeld; Lisa G Shaffer; Louise E Wilkins-Haug; James F Gusella; Cynthia C Morton
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

7.  Older males beget more mutations.

Authors:  Matthew Hurles
Journal:  Nat Genet       Date:  2012-11       Impact factor: 38.330

8.  Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Authors:  Cornelis A Albers; Dirk S Paul; Harald Schulze; Kathleen Freson; Jonathan C Stephens; Peter A Smethurst; Jennifer D Jolley; Ana Cvejic; Myrto Kostadima; Paul Bertone; Martijn H Breuning; Najet Debili; Panos Deloukas; Rémi Favier; Janine Fiedler; Catherine M Hobbs; Ni Huang; Matthew E Hurles; Graham Kiddle; Ingrid Krapels; Paquita Nurden; Claudia A L Ruivenkamp; Jennifer G Sambrook; Kenneth Smith; Derek L Stemple; Gabriele Strauss; Chantal Thys; Chris van Geet; Ruth Newbury-Ecob; Willem H Ouwehand; Cedric Ghevaert
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

9.  Pharmacogenomics: a key component of personalized therapy.

Authors:  Matthias Schwab; Elke Schaeffeler
Journal:  Genome Med       Date:  2012-11-29       Impact factor: 11.117

10.  Rate of de novo mutations and the importance of father's age to disease risk.

Authors:  Augustine Kong; Michael L Frigge; Gisli Masson; Soren Besenbacher; Patrick Sulem; Gisli Magnusson; Sigurjon A Gudjonsson; Asgeir Sigurdsson; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Wendy S W Wong; Gunnar Sigurdsson; G Bragi Walters; Stacy Steinberg; Hannes Helgason; Gudmar Thorleifsson; Daniel F Gudbjartsson; Agnar Helgason; Olafur Th Magnusson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962
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  2 in total

1.  The emergence of top-down proteomics in clinical research.

Authors:  John P Savaryn; Adam D Catherman; Paul M Thomas; Michael M Abecassis; Neil L Kelleher
Journal:  Genome Med       Date:  2013-06-27       Impact factor: 11.117

2.  Defining tissue proteomes by systematic literature review.

Authors:  Sarah A Hibbert; Matiss Ozols; Christopher E M Griffiths; Rachel E B Watson; Mike Bell; Michael J Sherratt
Journal:  Sci Rep       Date:  2018-01-11       Impact factor: 4.379
  2 in total

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