Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker von Wildeman, Martin, van Ophuizen, Ernest, den Dunnen, Johan T, Taschner, Peter E.M

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update von 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.

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A germline chromothripsis event stably segregating in 11 individuals through three generations von Bertelsen, Birgitte, Nazaryan-Petersen, Lusine, Sun, Wei, Mehrjouy, Mana M., Xie, Gangcai, Chen, Wei, Hjermind, Lena E., Taschner, Peter E.M., Tümer, Zeynep

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Describing structural changes by extending HGVS sequence variation nomenclature von Taschner, Peter E.M., den Dunnen, Johan T.

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LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach von Fokkema, Ivo F.A.C., den Dunnen, Johan T., Taschner, Peter E.M.

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Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma von Baysal, Bora E., Ferrell, Robert E., Willett-Brozick, Joan E., Lawrence, Elizabeth C., Myssiorek, David, Bosch, Anne, van der Mey, Andel, Peter E. M. Taschner, Rubinstein, Wendy S., Myers, Eugene N., Richard, Charles W., Cornelisse, Cees J., Devilee, Peter, Devlin, B.

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Deep sequencing to reveal new variants in pooled DNA samples von 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

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LOVD v.2.0: the next generation in gene variant databases von Fokkema, Ivo F. A. C., Taschner, Peter E. M., Schaafsma, Gerard C. P., Celli, J., Laros, Jeroen F. J., den Dunnen, Johan T.

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Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease von Mitchison, Hannah M., Bernard, David J., Greene, Nicholas D.E., Cooper, Jonathan D., Junaid, Mohammed A., Pullarkat, Raju K., de Vos, Nanneke, Breuning, Martijn H., Owens, Jennie W., Mobley, William C., Gardiner, R.Mark, Lake, Brian D., Taschner, Peter E.M., Nussbaum, Robert L.

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Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications von Soussi, Thierry, Taschner, Peter E.M., Samuels, Yardena

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice von Leroy, Bernard, Ballinger, Mandy L, Baran-Marszak, Fanny, Bond, Gareth L, Braithwaite, Antony, Concin, Nicole, Donehower, Lawrence A, El-Deiry, Wafik S, Fenaux, Pierre, Gaidano, Gianluca, Langerød, Anita, Hellstrom-Lindberg, Eva, Iggo, Richard, Lehmann-Che, Jacqueline, Mai, Phuong L, Malkin, David, Moll, Ute M, Myers, Jeffrey N, Nichols, Kim E, Pospisilova, Sarka, Ashton-Prolla, Patricia, Rossi, Davide, Savage, Sharon A, Strong, Louise C, Tonin, Patricia N, Zeillinger, Robert, Zenz, Thorsten, Fraumeni, Jr, Joseph F, Taschner, Peter E M, Hainaut, Pierre, Soussi, Thierry

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Spectrum of Mutations in the Batten Disease Gene, CLN3 von Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.

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Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era von Soussi, Thierry, Leroy, Bernard, Taschner, Peter E.M.

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants von Dalgleish, Raymond, Flicek, Paul, Cunningham, Fiona, Astashyn, Alex, Tully, Raymond E, Proctor, Glenn, Chen, Yuan, McLaren, William M, Larsson, Pontus, Vaughan, Brendan W, Béroud, Christophe, Dobson, Glen, Lehväslaiho, Heikki, Taschner, Peter Em, den Dunnen, Johan T, Devereau, Andrew, Birney, Ewan, Brookes, Anthony J, Maglott, Donna R

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome von Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang

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In search of triallelism in Bardet-Biedl syndrome von ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y

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An efficient algorithm for the extraction of HGVS variant descriptions from sequences von Vis, Jonathan K, Vermaat, Martijn, Taschner, Peter E M, Kok, Joost N, Laros, Jeroen F J

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Curating gene variant databases (LSDBs): Toward a universal standard von Celli, Jacopo, Dalgleish, Raymond, Vihinen, Mauno, Taschner, Peter E.M., den Dunnen, Johan T.

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The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency von Bayley, Jean-Pierre, Devilee, Peter, Taschner, Peter E M

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Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma von Bayley, Jean-Pierre, van Minderhout, Ivonne, Hogendoorn, Pancras C W, Cornelisse, Cees J, van der Wal, Annemieke, Prins, Frans A, Teppema, Luc, Dahan, Albert, Devilee, Peter, Taschner, Peter E M

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