Literature DB >> 25114273

Clinical genomics: when whole genome sequencing is like a whole-body CT scan.

Jason Y Park1, Larry J Kricka2, Peter Clark3, Eric Londin4, Paolo Fortina5.   

Abstract

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Year:  2014        PMID: 25114273      PMCID: PMC4396804          DOI: 10.1373/clinchem.2014.230276

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


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  13 in total

1.  Direct-to-consumer marketing of high-technology screening tests.

Authors:  Thomas H Lee; Troyen A Brennan
Journal:  N Engl J Med       Date:  2002-02-14       Impact factor: 91.245

Review 2.  Incidental findings in imaging diagnostic tests: a systematic review.

Authors:  B Lumbreras; L Donat; I Hernández-Aguado
Journal:  Br J Radiol       Date:  2010-04       Impact factor: 3.039

Review 3.  Whole genome sequencing as a diagnostic test: challenges and opportunities.

Authors:  Caitlin C Chrystoja; Eleftherios P Diamandis
Journal:  Clin Chem       Date:  2013-11-13       Impact factor: 8.327

4.  Whole-genome sequencing for optimized patient management.

Authors:  Matthew N Bainbridge; Wojciech Wiszniewski; David R Murdock; Jennifer Friedman; Claudia Gonzaga-Jauregui; Irene Newsham; Jeffrey G Reid; John K Fink; Margaret B Morgan; Marie-Claude Gingras; Donna M Muzny; Linh D Hoang; Shahed Yousaf; James R Lupski; Richard A Gibbs
Journal:  Sci Transl Med       Date:  2011-06-15       Impact factor: 17.956

5.  Power and limits of modern cancer diagnostics: cancer of unknown primary.

Authors:  K Hemminki; H Liu; A Heminki; J Sundquist
Journal:  Ann Oncol       Date:  2011-08-04       Impact factor: 32.976

Review 6.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Authors:  David T Miller; Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John A Crolla; Evan E Eichler; Charles J Epstein; W Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert M Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

7.  Effect of whole-body CT during trauma resuscitation on survival: a retrospective, multicentre study.

Authors:  Stefan Huber-Wagner; Rolf Lefering; Lars-Mikael Qvick; Markus Körner; Michael V Kay; Klaus-Jürgen Pfeifer; Maximilian Reiser; Wolf Mutschler; Karl-Georg Kanz
Journal:  Lancet       Date:  2009-03-25       Impact factor: 79.321

8.  Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

Authors:  Allison W Kurian; Emily E Hare; Meredith A Mills; Kerry E Kingham; Lisa McPherson; Alice S Whittemore; Valerie McGuire; Uri Ladabaum; Yuya Kobayashi; Stephen E Lincoln; Michele Cargill; James M Ford
Journal:  J Clin Oncol       Date:  2014-04-14       Impact factor: 44.544

9.  Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Authors:  Elizabeth A Worthey; Alan N Mayer; Grant D Syverson; Daniel Helbling; Benedetta B Bonacci; Brennan Decker; Jaime M Serpe; Trivikram Dasu; Michael R Tschannen; Regan L Veith; Monica J Basehore; Ulrich Broeckel; Aoy Tomita-Mitchell; Marjorie J Arca; James T Casper; David A Margolis; David P Bick; Martin J Hessner; John M Routes; James W Verbsky; Howard J Jacob; David P Dimmock
Journal:  Genet Med       Date:  2011-03       Impact factor: 8.822

10.  Guidelines for investigating causality of sequence variants in human disease.

Authors:  D G MacArthur; T A Manolio; D P Dimmock; H L Rehm; J Shendure; G R Abecasis; D R Adams; R B Altman; S E Antonarakis; E A Ashley; J C Barrett; L G Biesecker; D F Conrad; G M Cooper; N J Cox; M J Daly; M B Gerstein; D B Goldstein; J N Hirschhorn; S M Leal; L A Pennacchio; J A Stamatoyannopoulos; S R Sunyaev; D Valle; B F Voight; W Winckler; C Gunter
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

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  2 in total

1.  Insight updating of the molecular hallmarks in ovarian carcinoma.

Authors:  Alba Mota; Sara S Oltra; Gema Moreno-Bueno
Journal:  EJC Suppl       Date:  2020-08-22

Review 2.  Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.

Authors:  Tony Shen; Stefan Hans Pajaro-Van de Stadt; Nai Chien Yeat; Jimmy C-H Lin
Journal:  Front Genet       Date:  2015-06-17       Impact factor: 4.599

  2 in total

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