Literature DB >> 24088040

Next-generation sequencing for clinical diagnostics.

Howard J Jacob1.   

Abstract

Mesh：

Year:  2013        PMID： 24088040     DOI： 10.1056/NEJMe1310846

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  20 in total

1.  Consenting for molecular diagnostics.

Authors:  Robert Klitzman
Journal:  Clin Chem       Date:  2014-11-12       Impact factor: 8.327

2.  Plasma metabolomic profiles enhance precision medicine for volunteers of normal health.

Authors:  Lining Guo; Michael V Milburn; John A Ryals; Shaun C Lonergan; Matthew W Mitchell; Jacob E Wulff; Danny C Alexander; Anne M Evans; Brandi Bridgewater; Luke Miller; Manuel L Gonzalez-Garay; C Thomas Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  2015-08-17       Impact factor: 11.205

3.  Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.

Authors:  Sabrina Giglio; Aldesia Provenzano; Benedetta Mazzinghi; Francesca Becherucci; Laura Giunti; Giulia Sansavini; Fiammetta Ravaglia; Rosa Maria Roperto; Silvia Farsetti; Elisa Benetti; Mario Rotondi; Luisa Murer; Elena Lazzeri; Laura Lasagni; Marco Materassi; Paola Romagnani
Journal:  J Am Soc Nephrol       Date:  2014-07-24       Impact factor: 10.121

4.  Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

Authors:  Mark Harrison; Stephen Birch; Martin Eden; Simon Ramsden; Tracey Farragher; Katherine Payne; Georgina Hall; Graeme Cm Black
Journal:  J Community Genet       Date:  2015-01-09

5.  Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

Authors:  Erika Della Mina; Roberto Ciccone; Francesca Brustia; Baran Bayindir; Ivan Limongelli; Annalisa Vetro; Maria Iascone; Laura Pezzoli; Riccardo Bellazzi; Gianfranco Perotti; Valentina De Giorgis; Simona Lunghi; Giangennaro Coppola; Simona Orcesi; Pietro Merli; Salvatore Savasta; Pierangelo Veggiotti; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2014-05-21       Impact factor: 4.246

6.  Expansion of genetic testing in the division of functional genomics, research center for bioscience and technology, tottori university from 2000 to 2013.

Authors:  Kaori Adachi
Journal:  Yonago Acta Med       Date:  2014-04-28       Impact factor: 1.641

7.  Development of the clinical next-generation sequencing industry in a shifting policy climate.

Authors:  Margaret A Curnutte; Karen L Frumovitz; Juli M Bollinger; Amy L McGuire; David J Kaufman
Journal:  Nat Biotechnol       Date:  2014-10       Impact factor: 54.908

Review 8.  Genome sequencing in the clinic: the past, present, and future of genomic medicine.

Authors:  Jeremy W Prokop; Thomas May; Kim Strong; Stephanie M Bilinovich; Caleb Bupp; Surender Rajasekaran; Elizabeth A Worthey; Jozef Lazar
Journal:  Physiol Genomics       Date:  2018-05-04       Impact factor: 3.107

9.  Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.

Authors:  Ashton A Connor; Hagit Katzov-Eckert; Thomas Whelan; Melyssa Aronson; Lynette Lau; Christian Marshall; George S Charames; Aaron Pollett; Steven Gallinger; Jordan Lerner-Ellis
Journal:  Fam Cancer       Date:  2015-03       Impact factor: 2.375

Review 10.  Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

Authors:  Yong-Hui Jiang; Yi Wang; Xu Xiu; Kwong Wai Choy; Amber Nolen Pursley; Sau W Cheung
Journal:  Crit Rev Clin Lab Sci       Date:  2014-05-30       Impact factor: 6.250
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.