Recommendations of the 2006 Human Variome Project meeting
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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
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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
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The WayStation: The Novel Way for the Collection of Pancreatitis-Associated Mutations
Teich, Niels, Keim, Volker, Mössner, Joachim, G.H. Cotton, Richard, Horaitis, Ourania
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How to catch all those mutations—the report of the third human variome project meeting, UNESCO Paris, May 2010
Kohonen‐Corish, Maija R.J, Al‐Aama, Jumana Y, Auerbach, Arleen D, Axton, Myles, Barash, Carol Isaacson, Bernstein, Inge, Béroud, Christophe, Burn, John, Cunningham, Fiona, Cutting, Garry R, den Dunnen, Johan T, Greenblatt, Marc S, Kaput, Jim, Katz, Michael, Lindblom, Annika, Macrae, Finlay, Maglott, Donna, Möslein, Gabriela, Povey, Sue, Ramesar, Raj, Richards, Sue, Seminara, Daniela, Sobrido, María‐Jesús, Tavtigian, Sean, Taylor, Graham, Vihinen, Mauno, Winship, Ingrid, Cotton, Richard G.H
Published in Human Mutation (01.12.2010)
Published in Human Mutation (01.12.2010)
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Planning the Human Variome Project: The Spain report
Kaput, Jim, Cotton, Richard G.H, Hardman, Lauren, Watson, Michael, Al Aqeel, Aida I, Al-Aama, Jumana Y, Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D, Bapat, Bharati, Bernstein, Inge T, Bhak, Jong, Bleoo, Stacey L, Blöcker, Helmut, Brenner, Steven E, Burn, John, Bustamante, Mariona, Calzone, Rita, Cambon-Thomsen, Anne, Cargill, Michele, Carrera, Paola, Cavedon, Lawrence, Cho, Yoon Shin, Chung, Yeun-Jun, Claustres, Mireille, Cutting, Garry, Dalgleish, Raymond, den Dunnen, Johan T, Díaz, Carlos, Dobrowolski, Steven, dos Santos, M. Rosário N, Ekong, Rosemary, Flanagan, Simon B, Flicek, Paul, Furukawa, Yoichi, Genuardi, Maurizio, Ghang, Ho, Golubenko, Maria V, Greenblatt, Marc S, Hamosh, Ada, Hancock, John M, Hardison, Ross, Harrison, Terence M, Hoffmann, Robert, Horaitis, Rania, Howard, Heather J, Barash, Carol Isaacson, Izagirre, Neskuts, Jung, Jongsun, Kojima, Toshio, Laradi, Sandrine, Lee, Yeon-Su, Lee, Jong-Young, Gil-da-Silva-Lopes, Vera L, Macrae, Finlay A, Maglott, Donna, Marafie, Makia J, Marsh, Steven G.E, Matsubara, Yoichi, Messiaen, Ludwine M, Möslein, Gabriela, Netea, Mihai G, Norton, Melissa L, Oefner, Peter J, Oetting, William S, O'Leary, James C, de Ramirez, Ana Maria Oller, Paalman, Mark H, Parboosingh, Jillian, Patrinos, George P, Perozzi, Giuditta, Phillips, Ian R, Povey, Sue, Qi, Ming, Quin, David J, Ramesar, Rajkumar S, Richards, C. Sue, Savige, Judith, Scheible, Dagmar G, Scott, Rodney J, Seminara, Daniela, Shephard, Elizabeth A, Sijmons, Rolf H, Smith, Timothy D, Tanaka, Toshihiro, Tavtigian, Sean V, Taylor, Graham R, Teague, Jon, Töpel, Thoralf, Ullman-Cullere, Mollie, Utsunomiya, Joji, van Kranen, Henk J, Vihinen, Mauno, Webb, Elizabeth, Weber, Thomas K, Yeager, Meredith, Yeom, Young I, Yim, Seon-Hee, Yoo, Hyang-Sook
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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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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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George P, Qi, Ming, Ramesar, Rajkumar S, Scott, Rodney J, Sijmons, Rolf H, Sobrido, María-Jesús, Vihinen, Mauno
Published in Genetics in medicine (01.12.2009)
Published in Genetics in medicine (01.12.2009)
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Sharing data between LSDBs and central repositories
den Dunnen, Johan T, Sijmons, Rolf H, Andersen, Paal S, Vihinen, Mauno, Beckmann, Jacques S, Rossetti, Sandro, Talbot, C. Conover Jr, Hardison, Ross C, Povey, Sue, Cotton, Richard G.H
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
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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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Genetic tests need the Human Variome Project
Cotton, Richard G H, Vihinen, Mauno, den Dunnen, Johan T
Published in Genetic testing and molecular biomarkers (01.01.2011)
Published in Genetic testing and molecular biomarkers (01.01.2011)
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