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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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma von Bayley, Jean-Pierre, van Minderhout, Ivonne, Weiss, Marjan M, Jansen, Jeroen C, Oomen, Peter H N, Menko, Fred H, Pasini, Barbara, Ferrando, Barbara, Wong, Nora, Alpert, Lesley C, Williams, Rosie, Blair, Edward, Devilee, Peter, Taschner, Peter E M

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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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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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VarioML framework for comprehensive variation data representation and exchange von Byrne, Myles, Fokkema, Ivo Fac, Lancaster, Owen, Adamusiak, Tomasz, Ahonen-Bishopp, Anni, Atlan, David, Béroud, Christophe, Cornell, Michael, Dalgleish, Raymond, Devereau, Andrew, Patrinos, George P, Swertz, Morris A, Taschner, Peter Em, Thorisson, Gudmundur A, Vihinen, Mauno, Brookes, Anthony J, Muilu, Juha

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

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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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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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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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A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form von Laros, Jeroen F J, Blavier, André, den Dunnen, Johan T, Taschner, Peter E M

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Preserving sequence annotations across reference sequences von Tatum, Zuotian, Roos, Marco, Gibson, Andrew P, Taschner, Peter Em, Thompson, Mark, Schultes, Erik A, Laros, Jeroen Fj

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A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region von Baysal, B E, Willett-Brozick, J E, Taschner, P E, Dauwerse, J G, Devilee, P, Devlin, B

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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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The introductory page of the SDHD mutation database von Bayley, Jean-Pierre, Devilee, Peter, Taschner, Peter EM

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A partial overview of the SDHD table of allelic variants von Bayley, Jean-Pierre, Devilee, Peter, Taschner, Peter EM

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