DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
Savige, Judy, Ars, Elisabet, Cotton, Richard G. H., Crockett, David, Dagher, Hayat, Deltas, Constantinos, Ding, Jie, Flinter, Frances, Pont-Kingdon, Genevieve, Smaoui, Nizar, Torra, Roser, Storey, Helen
Published in Pediatric nephrology (Berlin, West) (01.06.2014)
Published in Pediatric nephrology (Berlin, West) (01.06.2014)
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Journal Article
Guidelines for establishing locus specific databases
Vihinen, Mauno, den Dunnen, Johan T., Dalgleish, Raymond, Cotton, Richard G. H.
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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Journal Article
Call for participation in the neurogenetics consortium within the Human Variome Project
Haworth, Andrea, Bertram, Lars, Carrera, Paola, Elson, Joanna L., Braastad, Corey D., Cox, Diane W., Cruts, Marc, den Dunnen, Johann T., Farrer, Matthew J., Fink, John K., Hamed, Sherifa A., Houlden, Henry, Johnson, Dennis R., Nuytemans, Karen, Palau, Francesc, Rayan, Dipa L. Raja, Robinson, Peter N., Salas, Antonio, Schüle, Birgitt, Sweeney, Mary G., Woods, Michael O., Amigo, Jorge, Cotton, Richard G. H., Sobrido, Maria-Jesus
Published in Neurogenetics (01.08.2011)
Published in Neurogenetics (01.08.2011)
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Journal Article
Coping with esophageal cancer approaches worldwide
Cotton, Richard G.H., Langer, Rupert, Leong, Trevor, Martinek, Jan, Sewram, Vikash, Smithers, Mark, Swanson, Paul E., Qiao, You-Lin, Udagawa, Harushi, Ueno, Masaki, Wang, Meng, Wei, Wen-Qiang, White, Russell E.
Published in Annals of the New York Academy of Sciences (01.09.2014)
Published in Annals of the New York Academy of Sciences (01.09.2014)
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Conference Proceeding
Journal Article
Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain
McKenzie, Matthew, Chiotis, Maria, Hroudová, Jana, Lopez Sanchez, Maria I.G., Lim, Sze Chern, Cook, Mark J., McKelvie, Penny, Cotton, Richard G. H., Murphy, Michael, St John, Justin C., Trounce, Ian A.
Published in Human mutation (01.12.2014)
Published in Human mutation (01.12.2014)
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Journal Article
Practical guidelines addressing ethical issues pertaining to the curation of human locus‐specific variation databases (LSDBs)
Povey, Sue, Al Aqeel, Aida I, Cambon‐Thomsen, Anne, Dalgleish, Raymond, den Dunnen, Johan T, Firth, Helen V, Greenblatt, Marc S, Barash, Carol Isaacson, Parker, Michael, Patrinos, George P, Savige, Judith, Sobrido, Maria‐Jesus, Winship, Ingrid, Cotton, Richard G.H
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
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Journal Article
Mutation (variation) databases and registries: a rationale for coordination of efforts
Auerbach, Arleen D., Burn, John, Cassiman, Jean-Jacques, Claustres, Mireille, Cotton, Richard G. H., Cutting, Garry, den Dunnen, Johan T., El-Ruby, Mona, Vargas, Aida Falcon, Greenblatt, Marc S., Macrae, Finlay, Matsubara, Yoichi, Rimoin, David L., Vihinen, Mauno, Van Broeckhoven, Christine
Published in Nature reviews. Genetics (01.12.2011)
Published in Nature reviews. Genetics (01.12.2011)
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Journal Article
Human variome project country nodes: Documenting genetic information within a country
Patrinos, George P., Smith, Timothy D., Howard, Heather, Al-Mulla, Fahd, Chouchane, Lotfi, Hadjisavvas, Andreas, Hamed, Sherifa A., Li, Xi-Tao, Marafie, Makia, Ramesar, Rajkumar S., Ramos, Feliciano J., de Ravel, Thomy, El-Ruby, Mona O., Shrestha, Tilak Ram, Sobrido, María-Jesús, Tadmouri, Ghazi, Witsch-Baumgartner, Martina, Zilfalil, Bin Alwi, Auerbach, Arleen D., Carpenter, Kevin, Cutting, Garry R., Dung, Vu Chi, Grody, Wayne, Hasler, Julia, Jorde, Lynn, Kaput, Jim, Macek, Milan, Matsubara, Yoichi, Padilla, Carmancita, Robinson, Helen, Rojas-Martinez, Augusto, Taylor, Graham R., Vihinen, Mauno, Weber, Tom, Burn, John, Qi, Ming, Cotton, Richard G. H., Rimoin, David
Published in Human mutation (01.11.2012)
Published in Human mutation (01.11.2012)
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Journal Article
Initiating a Human Variome Project Country Node
AlAama, Jumana, Smith, Timothy D., Lo, Alan, Howard, Heather, Kline, Alexandria A., Lange, Matthew, Kaput, Jim, Cotton, Richard G.H.
Published in Human mutation (01.05.2011)
Published in Human mutation (01.05.2011)
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Journal Article
Recommendations of the 2006 Human Variome Project meeting
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Journal Article
Conference Proceeding
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
Patrinos, George P., Al Aama, Jumana, Al Aqeel, Aida, Al-Mulla, Fahd, Borg, Joseph, Devereux, Andrew, Felice, Alex E., Macrae, Finlay, Marafie, Makia J., Petersen, Michael B., Qi, Ming, Ramesar, Rajkumar S., Zlotogora, Joel, Cotton, Richard G.H.
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article
The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards"
Howard, Heather J., Horaitis, Ourania, Cotton, Richard G.H., Vihinen, Mauno, Dalgleish, Raymond, Robinson, Peter, Brookes, Anthony J., Axton, Myles, Hoffmann, Robert, Tuffery-Giraud, Sylvie
Published in Human Mutation (01.03.2010)
Published in Human Mutation (01.03.2010)
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Conference Proceeding
Journal Article