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

gan Bayley, Jean-Pierre, Devilee, Peter, Taschner, Peter EM
Cyhoeddwyd 2005

Preserving sequence annotations across reference sequences

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

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

gan 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
Cyhoeddwyd 2006

VarioML framework for comprehensive variation data representation and exchange

gan 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
Cyhoeddwyd 2012-10-01

VarioML framework for comprehensive variation data representation and exchange

gan 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
Cyhoeddwyd 2012

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

gan 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
Cyhoeddwyd 2010

In search of triallelism in Bardet–Biedl syndrome

gan 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
Cyhoeddwyd 2012

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

gan 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
Cyhoeddwyd yn Cancer Res (2017)