Literature DB >> 23033977

Diagnostic exome sequencing--are we there yet?

Heather C Mefford.   

Abstract

Mesh：

Year:  2012        PMID： 23033977     DOI： 10.1056/NEJMe1211659

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


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  11 in total

1.  Next-generation sequencing: does the next generation still have a right to an open future?

Authors:  Annelien L Bredenoord; Martine C de Vries; Johannes J M van Delden
Journal:  Nat Rev Genet       Date:  2013-05       Impact factor: 53.242

2.  Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

Authors:  Michael Camilleri; Eric W Klee; Andrea Shin; Paula Carlson; Ying Li; Madhusudan Grover; Alan R Zinsmeister
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2013-11-07       Impact factor: 4.052

Review 3.  Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Authors:  Hudson H Freeze; Jessica X Chong; Michael J Bamshad; Bobby G Ng
Journal:  Am J Hum Genet       Date:  2014-02-06       Impact factor: 11.025

4.  Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Authors:  Ruth M Baxter; Valerie A Arboleda; Hane Lee; Hayk Barseghyan; Margaret P Adam; Patricia Y Fechner; Renee Bargman; Catherine Keegan; Sharon Travers; Susan Schelley; Louanne Hudgins; Revi P Mathew; Heather J Stalker; Roberto Zori; Ora K Gordon; Leigh Ramos-Platt; Anna Pawlikowska-Haddal; Ascia Eskin; Stanley F Nelson; Emmanuèle Délot; Eric Vilain
Journal:  J Clin Endocrinol Metab       Date:  2014-11-10       Impact factor: 5.958

Review 5.  Understanding human glycosylation disorders: biochemistry leads the charge.

Authors:  Hudson H Freeze
Journal:  J Biol Chem       Date:  2013-01-17       Impact factor: 5.157

6.  Genetic GIScience: Toward a Place-Based Synthesis of the Genome, Exposome, and Behavome.

Authors:  Geoffrey M Jacquez; Clive E Sabel; Chen Shi
Journal:  Ann Assoc Am Geogr       Date:  2015

Review 7.  Translational genetics for diagnosis of human disorders of sex development.

Authors:  Ruth M Baxter; Eric Vilain
Journal:  Annu Rev Genomics Hum Genet       Date:  2013-07-15       Impact factor: 8.929

8.  Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered.

Authors:  Rhodé M Bijlsma; Annelien L Bredenoord; Christa G Gadellaa-Hooijdonk; Martijn Pj Lolkema; Stefan Sleijfer; Emile E Voest; Margreet Gem Ausems; Neeltje Steeghs
Journal:  Eur J Hum Genet       Date:  2016-04-13       Impact factor: 4.246

9.  Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Authors:  Terry Vrijenhoek; Ken Kraaijeveld; Martin Elferink; Joep de Ligt; Elcke Kranendonk; Gijs Santen; Isaac J Nijman; Derek Butler; Godelieve Claes; Adalberto Costessi; Wim Dorlijn; Winfried van Eyndhoven; Dicky J J Halley; Mirjam C G N van den Hout; Steven van Hove; Lennart F Johansson; Jan D H Jongbloed; Rick Kamps; Christel E M Kockx; Bart de Koning; Marjolein Kriek; Ronald Lekanne Dit Deprez; Hans Lunstroo; Marcel Mannens; Olaf R Mook; Marcel Nelen; Corrette Ploem; Marco Rijnen; Jasper J Saris; Richard Sinke; Erik Sistermans; Marjon van Slegtenhorst; Frank Sleutels; Nienke van der Stoep; Marianne van Tienhoven; Martijn Vermaat; Maartje Vogel; Quinten Waisfisz; Janneke Marjan Weiss; Arthur van den Wijngaard; Wilbert van Workum; Helger Ijntema; Bert van der Zwaag; Wilfred F J van IJcken; Johan den Dunnen; Joris A Veltman; Raoul Hennekam; Edwin Cuppen
Journal:  Eur J Hum Genet       Date:  2015-01-28       Impact factor: 4.246

10.  Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Authors:  Ana Fernández-Marmiesse; Marcos Morey; Merce Pineda; Jesús Eiris; Maria Luz Couce; Manuel Castro-Gago; Jose Maria Fraga; Lucia Lacerda; Sofia Gouveia; Maria Socorro Pérez-Poyato; Judith Armstrong; Daisy Castiñeiras; Jose A Cocho
Journal:  Orphanet J Rare Dis       Date:  2014-04-25       Impact factor: 4.123
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