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Refinado por: Nome da Publicação: European Journal Of Human Genetics : Ejhg remover assunto: Genetics remover
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Guidelines for diagnostic next-generation sequencing
Guidelines for diagnostic next-generation sequencing
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Guidelines for diagnostic next-generation sequencing

Matthijs, Gert ; Souche, Erika ; Alders, Mariëlle ; Corveleyn, Anniek ; Eck, Sebastian ; Feenstra, Ilse ; Race, Valérie ; Sistermans, Erik ; Sturm, Marc ; Weiss, Marjan ; Yntema, Helger ; Bakker, Egbert ; Scheffer, Hans ; Bauer, Peter

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.2-5 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Towards a European consensus for reporting incidental findings during clinical NGS testing
Towards a European consensus for reporting incidental findings during clinical NGS testing
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Towards a European consensus for reporting incidental findings during clinical NGS testing

Hehir-Kwa, Jayne Y ; Claustres, Mireille ; Hastings, Ros J ; van Ravenswaaij-Arts, Conny ; Christenhusz, Gabrielle ; Genuardi, Maurizio ; Melegh, Béla ; Cambon-Thomsen, Anne ; Patsalis, Philippos ; Vermeesch, Joris ; Cornel, Martina C ; Searle, Beverly ; Palotie, Aarno ; Capoluongo, Ettore ; Peterlin, Borut ; Estivill, Xavier ; Robinson, Peter N

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1601-1606 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Seneca, Sara ; Vancampenhout, Kim ; Van Coster, Rudy ; Smet, Joél ; Lissens, Willy ; Vanlander, Arnaud ; De Paepe, Boel ; Jonckheere, An ; Stouffs, Katrien ; De Meirleir, Linda

European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.41-48 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Research participants in NGS studies want to know about incidental findings
Research participants in NGS studies want to know about incidental findings
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Research participants in NGS studies want to know about incidental findings

Jelsig, Anne Marie ; Qvist, Niels ; Brusgaard, Klaus ; Ousager, Lilian Bomme

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1423-1426 [Periódico revisado por pares]

England: Nature Publishing Group

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5
The Genome of the Netherlands: design, and project goals
The Genome of the Netherlands: design, and project goals
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The Genome of the Netherlands: design, and project goals

Boomsma, Dorret I ; Wijmenga, Cisca ; Slagboom, Eline P ; Swertz, Morris A ; Karssen, Lennart C ; Abdellaoui, Abdel ; Ye, Kai ; Guryev, Victor ; Vermaat, Martijn ; van Dijk, Freerk ; Francioli, Laurent C ; Hottenga, Jouke Jan ; Laros, Jeroen F J ; Li, Qibin ; Li, Yingrui ; Cao, Hongzhi ; Chen, Ruoyan ; Du, Yuanping ; Li, Ning ; Cao, Sujie ; van Setten, Jessica ; Menelaou, Androniki ; Pulit, Sara L ; Hehir-Kwa, Jayne Y ; Beekman, Marian ; Elbers, Clara C ; Byelas, Heorhiy ; de Craen, Anton J M ; Deelen, Patrick ; Dijkstra, Martijn ; den Dunnen, Johan T ; de Knijff, Peter ; Houwing-Duistermaat, Jeanine ; Koval, Vyacheslav ; Estrada, Karol ; Hofman, Albert ; Kanterakis, Alexandros ; Enckevort, David van ; Mai, Hailiang ; Kattenberg, Mathijs ; van Leeuwen, Elisabeth M ; Neerincx, Pieter B T ; Oostra, Ben ; Rivadeneira, Fernanodo ; Suchiman, Eka H D ; Uitterlinden, Andre G ; Willemsen, Gonneke ; Wolffenbuttel, Bruce H ; Wang, Jun ; de Bakker, Paul I W ; van Ommen, Gert-Jan ; van Duijn, Cornelia M

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.221-227 [Periódico revisado por pares]

England: Nature Publishing Group

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6
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

Andreasen, Charlotte ; Nielsen, Jonas B ; Refsgaard, Lena ; Holst, Anders G ; Christensen, Alex H ; Andreasen, Laura ; Sajadieh, Ahmad ; Haunsø, Stig ; Svendsen, Jesper H ; Olesen, Morten S

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.918-928 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research
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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Middleton, Anna ; Morley, Katherine I ; Bragin, Eugene ; Firth, Helen V ; Hurles, Matthew E ; Wright, Caroline F ; Parker, Michael

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.21-29 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
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Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

Castéra, Laurent ; Krieger, Sophie ; Rousselin, Antoine ; Legros, Angélina ; Baumann, Jean-Jacques ; Bruet, Olivia ; Brault, Baptiste ; Fouillet, Robin ; Goardon, Nicolas ; Letac, Olivier ; Baert-Desurmont, Stéphanie ; Tinat, Julie ; Bera, Odile ; Dugast, Catherine ; Berthet, Pascaline ; Polycarpe, Florence ; Layet, Valérie ; Hardouin, Agnes ; Frébourg, Thierry ; Vaur, Dominique

European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1305-1313 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Glöckle, Nicola ; Kohl, Susanne ; Mohr, Julia ; Scheurenbrand, Tim ; Sprecher, Andrea ; Weisschuh, Nicole ; Bernd, Antje ; Rudolph, Günther ; Schubach, Max ; Poloschek, Charlotte ; Zrenner, Eberhart ; Biskup, Saskia ; Berger, Wolfgang ; Wissinger, Bernd ; Neidhardt, John

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.99-104 [Periódico revisado por pares]

England: Nature Publishing Group

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10
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
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RNA-Seq and human complex diseases: recent accomplishments and future perspectives

Costa, Valerio ; Aprile, Marianna ; Esposito, Roberta ; Ciccodicola, Alfredo

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.134-142 [Periódico revisado por pares]

England: Nature Publishing Group

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