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Refinado por: Nome da Publicação: Human Mutation remover
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LOVD v.2.0: the next generation in gene variant databases
LOVD v.2.0: the next generation in gene variant databases
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LOVD v.2.0: the next generation in gene variant databases

Fokkema, Ivo F. A. C. ; Taschner, Peter E. M. ; Schaafsma, Gerard C. P. ; Celli, J. ; Laros, Jeroen F. J. ; den Dunnen, Johan T.

Human mutation, 2011-05, Vol.32 (5), p.557-563 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

den Dunnen, Johan T. ; Dalgleish, Raymond ; Maglott, Donna R. ; Hart, Reece K. ; Greenblatt, Marc S. ; McGowan-Jordan, Jean ; Roux, Anne-Francoise ; Smith, Timothy ; Antonarakis, Stylianos E. ; Taschner, Peter E.M.

Human mutation, 2016-06, Vol.37 (6), p.564-569 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications
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Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications

Soussi, Thierry ; Taschner, Peter E.M. ; Samuels, Yardena

Human mutation, 2017-04, Vol.38 (4), p.339-342 [Periódico revisado por pares]

United States: Hindawi Limited

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4
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Wildeman, Martin ; van Ophuizen, Ernest ; den Dunnen, Johan T ; Taschner, Peter E.M

Human mutation, 2008-01, Vol.29 (1), p.6-13 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Philippakis, Anthony A. ; Azzariti, Danielle R. ; Beltran, Sergi ; Brookes, Anthony J. ; Brownstein, Catherine A. ; Brudno, Michael ; Brunner, Han G. ; Buske, Orion J. ; Carey, Knox ; Doll, Cassie ; Dumitriu, Sergiu ; Dyke, Stephanie O.M. ; den Dunnen, Johan T. ; Firth, Helen V. ; Gibbs, Richard A. ; Girdea, Marta ; Gonzalez, Michael ; Haendel, Melissa A. ; Hamosh, Ada ; Holm, Ingrid A. ; Huang, Lijia ; Hurles, Matthew E. ; Hutton, Ben ; Krier, Joel B. ; Misyura, Andriy ; Mungall, Christopher J. ; Paschall, Justin ; Paten, Benedict ; Robinson, Peter N. ; Schiettecatte, François ; Sobreira, Nara L. ; Swaminathan, Ganesh J. ; Taschner, Peter E. ; Terry, Sharon F. ; Washington, Nicole L. ; Züchner, Stephan ; Boycott, Kym M. ; Rehm, Heidi L.

Human mutation, 2015-10, Vol.36 (10), p.915-921 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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6
Describing structural changes by extending HGVS sequence variation nomenclature
Describing structural changes by extending HGVS sequence variation nomenclature
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Describing structural changes by extending HGVS sequence variation nomenclature

Taschner, Peter E.M. ; den Dunnen, Johan T.

Human mutation, 2011-05, Vol.32 (5), p.507-511 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Curating gene variant databases (LSDBs): Toward a universal standard
Curating gene variant databases (LSDBs): Toward a universal standard
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Curating gene variant databases (LSDBs): Toward a universal standard

Celli, Jacopo ; Dalgleish, Raymond ; Vihinen, Mauno ; Taschner, Peter E.M. ; den Dunnen, Johan T.

Human mutation, 2012-02, Vol.33 (2), p.291-297 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era
Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era
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Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

Soussi, Thierry ; Leroy, Bernard ; Taschner, Peter E.M.

Human mutation, 2014-06, Vol.35 (6), p.766-778 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
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LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

Fokkema, Ivo F.A.C. ; den Dunnen, Johan T. ; Taschner, Peter E.M.

Human mutation, 2005-08, Vol.26 (2), p.63-68 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Deep sequencing to reveal new variants in pooled DNA samples
Deep sequencing to reveal new variants in pooled DNA samples
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Deep sequencing to reveal new variants in pooled DNA samples

Out, Astrid A ; van Minderhout, Ivonne J.H.M ; Goeman, Jelle J ; Ariyurek, Yavuz ; Ossowski, Stephan ; Schneeberger, Korbinian ; Weigel, Detlef ; van Galen, Michiel ; Taschner, Peter E.M ; Tops, Carli M.J ; Breuning, Martijn H ; van Ommen, Gert-Jan B ; den Dunnen, Johan T ; Devilee, Peter ; Hes, Frederik J

Human mutation, 2009-12, Vol.30 (12), p.1703-1712 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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