The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

Por Bayley, Jean-Pierre, Devilee, Peter, Taschner, Peter EM
Publicado em 2005

Preserving sequence annotations across reference sequences

Por Tatum, Zuotian, Roos, Marco, Gibson, Andrew P, Taschner, Peter EM, Thompson, Mark, Schultes, Erik A, Laros, Jeroen FJ
Publicado em 2014

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Por Bayley, Jean-Pierre, van Minderhout, Ivonne, Weiss, Marjan M, Jansen, Jeroen C, Oomen, Peter HN, Menko, Fred H, Pasini, Barbara, Ferrando, Barbara, Wong, Nora, Alpert, Lesley C, Williams, Rosie, Blair, Edward, Devilee, Peter, Taschner, Peter EM
Publicado em 2006

VarioML framework for comprehensive variation data representation and exchange

Por 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
Publicado em 2012-10-01

VarioML framework for comprehensive variation data representation and exchange

Por 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
Publicado em 2012

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Por 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
Publicado em 2010

In search of triallelism in Bardet–Biedl syndrome

Por Abu-Safieh, Leen, Al-Anazi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Alkuraya, Hisham, Alamr, Mushari, Sirelkhatim, Mugtaba O, Al-Hassnan, Zuhair, Alkuraya, Basim, Mohamed, Jawahir Y, Al-Salem, Ahmad, Alrashed, May, Faqeih, Eissa, Softah, Ameen, Al-Hashem, Amal, Wali, Sami, Rahbeeni, Zuhair, Alsayed, Moeen, Khan, Arif O, Al-Gazali, Lihadh, Taschner, Peter EM, Al-Hazzaa, Selwa, Alkuraya, Fowzan S
Publicado em 2012

Recommended guidelines for validation, quality control and reporting of TP53 variants in clinical practice

Por 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, Joseph F., Taschner, Peter E.M., Hainaut, Pierre, Soussi, Thierry
Publicado no Cancer Res (2017)