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There are 125893 results for: content related to: Mandatory variant submission—Our experiences

  1. You have free access to this content
    Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 598–615,

    Version of Record online : 26 APR 2016, DOI: 10.1002/humu.22990

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    In Memoriam: Richard G.H. Cotton (1940–2015)

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 741–742, Haig H. Kazazian Jr., Mark H. Paalman and Garry R. Cutting

    Version of Record online : 3 JUL 2015, DOI: 10.1002/humu.22826

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    On genomic DNA paradigms, research publications, and scholarly inquiry

    Human Mutation

    Volume 31, Issue 10, October 2010, Page: 1089, Mark H. Paalman, Richard G.H. Cotton and Garry R. Cutting

    Version of Record online : 28 SEP 2010, DOI: 10.1002/humu.21353

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    Erratum: A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T

    Human Mutation

    Volume 26, Issue 6, December 2005, Page: 592, Paula M. Hempen, Harsha Kurpad, Eric S. Calhoun, Susan Abraham and Scott E. Kern

    Version of Record online : 14 NOV 2005, DOI: 10.1002/humu.9387

  5. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 690–702, Susan J. Ramus, Antonis C. Antoniou, Karoline B. Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen, Anne-Marie Gerdes, Torben A. Kruse, Uffe Birk Jensen, Anne-Bine Skytte, Maria A. Caligo, Annelie Liljegren, Annika Lindblom, Håkan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, SWE-BRCA, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Ana Osorio, Javier Benitez, Mercedes Duran, Maria-Isabel Tejada, Ute Hamann, Matti Rookus, Flora E. van Leeuwen, Cora M. Aalfs, Hanne E.J. Meijers-Heijboer, Christi J. van Asperen, K.E.P. van Roozendaal, Nicoline Hoogerbrugge, J. Margriet Collée, Mieke Kriege, Rob B. van der Luijt, HEBON, EMBRACE, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Fiona Lalloo, Chris Jacobs, Ros Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Lisa Walker, Mary E. Porteous, M. John Kennedy, Harsh Pathak, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Virginie Caux-Moncoutier, Antoine de Pauw, Marion Gauthier-Villars, Sylvie Mazoyer, Mélanie Léoné, Alain Calender, Christine Lasset, Valérie Bonadona, Agnès Hardouin, Pascaline Berthet, Yves-Jean Bignon, Nancy Uhrhammer, Laurence Faivre, Catherine Loustalot, GEMO, Saundra Buys, Mary Daly, Alex Miron, Mary Beth Terry, Wendy K. Chung, Esther M John, Melissa Southey, David Goldgar, Christian F. Singer, Muy-Kheng Tea, Georg Pfeiler, Anneliese Fink-Retter, Thomas v. O. Hansen, Bent Ejlertsen, Oskar Th. Johannsson, Kenneth Offit, Tomas Kirchhoff, Mia M. Gaudet, Joseph Vijai, Mark Robson, Marion Piedmonte, Kelly-Anne Phillips, Linda Van Le, James S Hoffman, Amanda Ewart Toland, Marco Montagna, Silvia Tognazzo, Evgeny Imyanitov, Claudine Isaacs, Ramunas Janavicius, Conxi Lazaro, Ignacio Blanco, Eva Tornero, Matilde Navarro, Kirsten B. Moysich, Beth Y. Karlan, Jenny Gross, Edith Olah, Tibor Vaszko, Soo-Hwang Teo, Patricia A. Ganz, Mary S. Beattie, Cecelia M Dorfling, Elizabeth J. van Rensburg, Orland Diez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorotehea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Dieter Schäfer, Trinidad Caldes, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Marie Plante, Amanda B. Spurdle, kConFab, Susan L. Neuhausen, Yuan Chun Ding, Xianshu Wang, Noralane Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Bernardo Bonanni, Loris Bernard, Riccardo Dolcetti, Laura Papi, Laura Ottini, Paolo Radice, Mark H. Greene, Phuong L. Mai, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, OCGN, Paul D.P. Pharoah, Simon A. Gayther, Jacques Simard, Douglas F. Easton, Fergus J. Couch, Georgia Chenevix-Trench and on behalf of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

    Version of Record online : 14 FEB 2012, DOI: 10.1002/humu.22025

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    Erratum: Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients

    Human Mutation

    Volume 25, Issue 2, February 2005, Page: 223, Özgül M. Alper, Lee-Jun C. Wong, Suzanne Young, Michelle Pearl, Steve Graham, John Sherwin, Eliezer Nussbaum, Dennis Nielson, Arnold Platzker, Zoe Davies, Allan Lieberthal, Terry Chin, Greg Shay, Karen Hardy and Martin Kharrazi

    Version of Record online : 10 JAN 2005, DOI: 10.1002/humu.9306

  7. On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1075–1099, David N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vasquez, Hildegard Kehrer-Sawatzki and Jian-Min Chen

    Version of Record online : 2 SEP 2011, DOI: 10.1002/humu.21557

  8. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1687–1696, Laura Thomas, Mark Richards, Matthew Mort, Elaine Dunlop, David N. Cooper and Meena Upadhyaya

    Version of Record online : 6 AUG 2012, DOI: 10.1002/humu.22162

  9. Understanding the recent evolution of the human genome: insights from human–chimpanzee genome comparisons

    Human Mutation

    Volume 28, Issue 2, February 2007, Pages: 99–130, Hildegard Kehrer-Sawatzki and David N. Cooper

    Version of Record online : 5 OCT 2006, DOI: 10.1002/humu.20420

  10. 11q13 is a susceptibility locus for hormone receptor positive breast cancer

    Human Mutation

    Volume 33, Issue 7, July 2012, Pages: 1123–1132, Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K. Humphreys, Jean Wang, John L. Hopper, Gillian S. Dite, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias Pérez, Javier Benítez, Ute Hamann, Yon-Dschun Ko, Thomas Brüning, The GENICA Network, Jenny Chang-Claude, Ursel Eilber, Rebecca Hein, Stefan Nickels, Dieter Flesch-Janys, Shan Wang-Gohrke, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Georgia Chenevix-Trench, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, Australian Ovarian Cancer Study Group, Florence Menegaux, Emilie Cordina-Duverger, Chen-Yang Shen, Jyh-Cherng Yu, Pei-Ei Wu, Ming-Feng Hou, Irene L. Andrulis, Teresa Selander, Gord Glendon, Anna Marie Mulligan, Hoda Anton-Culver, Argyrios Ziogas, Kenneth R. Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Michael Jones, Nicholas Orr, Alan Ashworth, Anthony Swerdlow, Gianluca Severi, Laura Baglietto, Graham Giles, Melissa Southey, Federik Marmé, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Betul T. Yesilyurt, Patrick Neven, Robert Paridaens, Hans Wildiers, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Sarah Schott, Claus R. Bartram, Rita K. Schmutzler, Angela Cox, Ian W. Brock, Graeme Elliott, Simon S. Cross, Peter A. Fasching, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia V. Bogdanova, Natalia N. Antonenkova, Yuri I. Rogov, Johann H. Karstens, Elza Khusnutdinova, Marina Bermisheva, Darya Prokofieva, Shamil Gancev, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Børge G. Nordestgaard, Stig E. Bojesen, Charlotte Lanng, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Grethe Grenaker Alnæs, Vessela Kristensen, Anne-Lise Børresen-Dale, Peter Devilee, Robert A.E.M. Tollenaar, Caroline M. Seynaeve, Maartje J. Hooning, Montserrat García-Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Jianjun Liu, Kamila Czene, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Annika Lindblom, Sara Margolin, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton, Pascal Guénel and Hiltrud Brauch

    Version of Record online : 30 APR 2012, DOI: 10.1002/humu.22089

  11. Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease

    Human Mutation

    Volume 28, Issue 11, November 2007, Pages: 1065–1073, Xueying Liang, Eden R. Martin, Nathalie Schnetz-Boutaud, Jackie Bartlett, Brent Anderson, Stephan Züchner, Harry Gwirtsman, Don Schmechel, Regina Carney, John R. Gilbert, Margaret A. Pericak-Vance and Jonathan L. Haines

    Version of Record online : 15 JUN 2007, DOI: 10.1002/humu.20567

  12. Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1407–1416, Gareth J. McKay, Chris C. Patterson, Usha Chakravarthy, Shilpa Dasari, Caroline C. Klaver, Johannes R. Vingerling, Lintje Ho, Paulus T.V.M. de Jong, Astrid E. Fletcher, Ian S. Young, Johan H. Seland, Mati Rahu, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Jesus Vioque, Aroon D. Hingorani, Reecha Sofat, Michael Dean, Julie Sawitzke, Johanna M. Seddon, Inga Peter, Andrew R. Webster, Anthony T. Moore, John R.W. Yates, Valentina Cipriani, Lars G. Fritsche, Bernhard H.F. Weber, Claudia N. Keilhauer, Andrew J. Lotery, Sarah Ennis, Michael L. Klein, Peter J. Francis, Dwight Stambolian, Anton Orlin, Michael B. Gorin, Daniel E. Weeks, Chia-Ling Kuo, Anand Swaroop, Mohammad Othman, Atsuhiro Kanda, Wei Chen, Goncalo R. Abecasis, Alan F. Wright, Caroline Hayward, Paul N. Baird, Robyn H. Guymer, John Attia, Ammarin Thakkinstian and Giuliana Silvestri

    Version of Record online : 12 SEP 2011, DOI: 10.1002/humu.21577

  13. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

    Human Mutation

    Volume 23, Issue 4, April 2004, Page: 395, Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke and David Ravine

    Version of Record online : 8 MAR 2004, DOI: 10.1002/humu.20042

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    How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

    Human Mutation

    Volume 31, Issue 12, December 2010, Pages: 1374–1381, Maija R.J. Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. den Dunnen, Marc S. Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar, Sue Richards, Daniela Seminara, María-Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship, Richard G.H. Cotton and on behalf of contributors to the Human Variome Project Meeting

    Version of Record online : 22 NOV 2010, DOI: 10.1002/humu.21379

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    Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism

    Human Mutation

    Volume 25, Issue 3, March 2005, Page: 317, Jordan P. Lerner-Ellis, C. Melissa Dobson, Timothy Wai, David Watkins, Jamie C. Tirone, Daniel Leclerc, Carole Doré, Pierre Lepage, Roy A. Gravel and David S. Rosenblatt

    Version of Record online : 14 FEB 2005, DOI: 10.1002/humu.20149

  16. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 237–247, Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

    Version of Record online : 17 OCT 2012, DOI: 10.1002/humu.22224

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    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Human Mutation

    Volume 28, Issue 2, February 2007, Pages: 207–208, Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanne G.M. Frints, Guy Froyen, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, Laetitia Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gecz, Andreas W. Kuss, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers and Ben C.J. Hamel

    Version of Record online : 12 JAN 2007, DOI: 10.1002/humu.9482

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    Human variome project country nodes: Documenting genetic information within a country

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1513–1519, George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Ravel, Mona O. El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D. Auerbach, Kevin Carpenter, Garry R. Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R. Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G. H. Cotton, David Rimoin and (International Confederation of Countries Advisory Council)

    Version of Record online : 18 JUL 2012, DOI: 10.1002/humu.22147

  19. You have full text access to this OnlineOpen article
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1052–1063, Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, Dusica Babovic-Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben-Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat-Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández-Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano-Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin-Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius and Ludwine Messiaen

    Version of Record online : 21 AUG 2015, DOI: 10.1002/humu.22832

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    Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

    Human Mutation

    Volume 29, Issue 1, January 2008, Pages: 6–13, Martin Wildeman, Ernest van Ophuizen, Johan T. den Dunnen and Peter E.M. Taschner

    Version of Record online : 13 NOV 2007, DOI: 10.1002/humu.20654