Human Mutation, 1059-7794

Tidskrift

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  1. 2020
  2. Novel F8 and F9 gene variants from the PedNet Hemophilia Registry classified according to ACMG/AMP guidelines

    Nadine G Andersson, Veerle Labarque, Anna Letelier, Maria Elisa Mancuso, Martina Bührlen, Kathelijn Fischer, Mutlu Kartal-Kaess, Minna Koskenvuo, Torben Mikkelsen, Rolf Ljung & PedNet Study Group PedNet Study Group, 2020 sep 15, I : Human Mutation.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2019
  4. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

    Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Barun Das, Jozef Hertecant, Lynn Greenhalgh, Trevor Cole, Vered Pinsk, Baruch Yerushalmi, Odul E. Gurkan, Michael Yourshaw, Erick Hernandez, Sandy Oesterreicher, Sandhia Naik, Ian R. Sanderson, Irene Axelsson, Daniel Agardh, C. Richard Boland, Martin G. Martin, Christopher D. Putnam & 1 andra, Mamata Sivagnanam, 2019 feb, I : Human Mutation. 40, 2, s. 142-161

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Checklist for gene/disease-specific variation database curators to enable ethical data management

    Rosemary Ekong & Mauno Vihinen, 2019, I : Human Mutation. 40, 10, s. 1634-1640

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Blümcke & 31 andra, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A Caligo, Mariarosaria Calvello, Gabriele L Capone, Sandrine M Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M Clarke, Paola Concolino, Elisa J Cops, Laura Cortesi, Fergus J Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Hans Ehrencrona, Anders Kvist, Therese Törngren & KConFab Investigators KConFab Investigators, 2019, I : Human Mutation. s. 1557-1578

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. 2018
  8. Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis

    Pilar Mur, Ann-Sofie Jemth, Luka Bevc, Nuno Amaral, Matilde Navarro, Rafael Valdés-Mas, Tirso Pons, Gemma Aiza, Miguel Urioste, Alfonso Valencia, Conxi Lázaro, Victor Moreno, Xose S Puente, Pål Stenmark, Ulrika Warpman-Berglund, Gabriel Capellá, Thomas Helleday & Laura Valle, 2018 sep, I : Human Mutation. 39, 9, s. 1214-1225

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Timothy R. Rebbeck, Tara M. Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I. Olopade, Angela R. Solano, Soo Hwang Teo, Mads Thomassen, Jeffrey N. Weitzel, Tl Chan, Fergus J. Couch, David E. Goldgar, Torben A. Kruse, Edenir Inêz Palmero, Sue Kyung Park, Diana Torres, Elizabeth J. van Rensburg & 221 andra, Lesley Mcguffog, Michael T. Parsons, Goska Leslie, Cora M. Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomäki, Lesley Andrews, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Banu K. Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmaña, Monica Barile, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M. Blanco, Kathleen R. Blazer, Marinus J. Blok, Valérie Bonadona, Bernardo Bonanni, Angela R. Bradbury, Carole Brewer, Bruno Buecher, Saundra S. Buys, Trinidad Caldes, Almuth Caliebe, Maria A. Caligo, Ian Campbell, Sandrine M. Caputo, Jocelyne Chiquette, Wendy K. Chung, Kathleen B.M. Claes, J. Margriet Collée, Jackie Cook, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Antoine de Pauw, Capucine Delnatte, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M. Domchek, Cecilia M. Dorfling, Carolina Velazquez, Bernd Dworniczak, Jacqueline Eason, Douglas F. Easton, Ros Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Stefanie Engert, D. Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Sandra Fert Ferrer, Lenka Foretova, Jeffrey Fowler, Debra Frost, Henrique C.R. Galvão, Patricia A. Ganz, Judy Garber, Marion Gauthier-Villars, Andrea Gehrig, Anne Marie Gerdes, Paul Gesta, Giuseppe Giannini, Sophie Giraud, Gord Glendon, Andrew K. Godwin, Mark H. Greene, Jacek Gronwald, Angelica Gutierrez-Barrera, Eric Hahnen, Jan Hauke, Alex Henderson, Julia Hentschel, Frans B.L. Hogervorst, Ellen Honisch, Evgeny N. Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M. John, Joseph Vijai, Katarzyna Kaczmarek, Beth Y. Karlan, Karin Kast, Sung Won Kim, Irene Konstantopoulou, Jacob Korach, Yael Laitman, Adriana Lasa, Christine Lasset, Conxi Lázaro, Annette Lee, Min Hyuk Lee, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Noralane M. Lindor, Michel Longy, Jennifer T. Loud, Karen H. Lu, Jan Lubinski, Eva Machackova, Siranoush Manoukian, Véronique Mari, Cristina Martínez-Bouzas, Zoltan Matrai, Noura Mebirouk, Hanne E.J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Ugnius Mickys, Austin Miller, Marco Montagna, Kirsten B. Moysich, Anna Marie Mulligan, Jacob Musinsky, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow, Huu Phuc Nguyen, Dieter Niederacher, Henriette Roed Nielsen, Finn Cilius Nielsen, Robert L. Nussbaum, Kenneth Offit, Anna Öfverholm, Kai ren Ong, Ana Osorio, Laura Papi, Janos Papp, Barbara Pasini, Inge Sokilde Pedersen, Ana Peixoto Msc, Nina Peruga Msc, Paolo Peterlongo, Esther Pohl, Nisha Pradhan Ba, Karolina Prajzendanc, Fabienne Prieur, Pascal Pujol, Paolo Radice, Susan J. Ramus, Johanna Rantala, Muhammad Usman Rashid, Kerstin Rhiem, Mark Robson, Gustavo C. Rodriguez, Mark T. Rogers, Vilius Rudaitis, Ane Y. Schmidt, Rita Katharina Schmutzler, Leigha Senter, Payal D. Shah, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Anne Bine Skytte, Thomas P. Slavin, Katie Snape, Hagay Sobol, Melissa Southey, Linda Steele, Doris Steinemann, Grzegorz Sukiennicki, Christian Sutter, Csilla I. Szabo, Yen Y. Tan, Manuel R. Teixeira, Mary Beth Terry, Alex Teulé, Abigail Thomas, Darcy L. Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Sabine Topka, Alison H. Trainer, Nadine Tung, Christi J. van Asperen, Annemieke H. van der Hout, Lizet E. van der Kolk, Rob B. van der Luijt, Mattias Van Heetvelde, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Cynthia Villarreal-Garza, Anna von Wachenfeldt, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H.F. Weber, Drakoulis Yannoukakos, Sook Yee Yoon, Cristina Zanzottera, Jamal Zidan, Kristin K. Zorn, Christina G. Hutten Selkirk, Peter J. Hulick, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou & Katherine L. Nathanson, 2018, I : Human Mutation.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 2017
  11. How to Define Pathogenicity, Health, and Disease?

    Mauno Vihinen, 2017 feb 1, I : Human Mutation. 38, 2, s. 129-136 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases

    Gerard C.P. Schaafsma & Mauno Vihinen, 2017, I : Human Mutation. 38, 7, s. 839-848

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins

    Mauno Vihinen, 2017, I : Human Mutation. 38, 3, s. 241-241 1 s.

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  14. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI

    Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R. Pal, Susanna Repo, Maria Chiara Scaini & 11 andra, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult & Silvio C.E. Tosatto, 2017, I : Human Mutation. 38, 9, s. 1042-1050

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned

    Abhishek Niroula & Mauno Vihinen, 2017, I : Human Mutation. 38, 9, s. 1085-1091

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

    Roxana Daneshjou, Yanran Wang, Yana Bromberg, Samuele Bovo, Pier Luigi Martelli, Giulia Babbi, Pietro Di Lena, Rita Casadio, Matthew Edwards, David Gifford, David T W Jones, Laksshman Sundaram, Rajendra Bhat, Xiaolin Li, Lipika R. Pal, Kunal Kundu, Yizhou Yin, John Moult, Yuxiang Jiang, Vikas R. Pejaver & 31 andra, Kymberleigh A. Pagel, Biao Li, Sean D. Mooney, Predrag Radivojac, Sohela Shah, Marco Carraro, Alessandra Gasparini, Emanuela Leonardi, Manuel Giollo, Carlo Ferrari, Silvio C.E. Tosatto, Eran Bachar, Johnathan R. Azaria, Yanay Ofran, Ron Unger, Abhishek Niroula, Mauno Vihinen, Billy Chang, Maggie H. Wang, Andre Franke, Britt Sabina Petersen, Mehdi Pirooznia, Peter Zandi, Richard Mccombie, James B. Potash, Russ B. Altman, Teri E. Klein, Roger A. Hoskins, Susanna Repo, Steven E Brenner & Alexander A. Morgan, 2017, I : Human Mutation. 38, 9, s. 1182-1192

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 2016
  18. Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies

    Emilia Niemiec, Pascal Borry, Wim Pinxten & Heidi Carmen Howard, 2016 dec 1, I : Human Mutation. 37, 12, s. 1248-1256 9 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. Both Generic and Protein-Specific Tolerance Predictors Are Needed

    Mauno Vihinen, 2016 okt 1, I : Human Mutation. 37, 10, s. 989 1 s.

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  20. Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Abhishek Niroula & Mauno Vihinen, 2016 jun 1, I : Human Mutation. 37, 6, s. 579-597 19 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

    Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, Rita Barone, Gerard T Berry, Jane E Brumbaugh, Kati J Buckingham, Katie Clarkson, F Sessions Cole, Shawn O'Connor, Gregory M Cooper, Rudy Van Coster, Laurie A Demmer & 39 andra, Luisa Diogo, Alexander J Fay, Can Ficicioglu, Agata Fiumara, William A Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A Harshman, Miao He, Jaak Jaeken, Philip M James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A Nickerson, Heidi L Peters, Valerie Race, Luc Régal, Jeffrey S Rush, S Lane Rutledge, Jay Shendure, Erika Souche, Susan E Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J Waechter, Raymond Y Wang, Lynne A Wolfe, Derek A Wong, Tim Wood, Amy C Yang, Gert Matthijs & Hudson H Freeze, 2016, I : Human Mutation.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Human Variome Project Quality Assessment Criteria for Variation Databases.

    Mauno Vihinen, John M Hancock, Donna R Maglott, Melissa J Landrum, Gerard Schaafsma & Peter Taschner, 2016, I : Human Mutation. 37, 6, s. 549 558 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.

    Gerard Schaafsma & Mauno Vihinen, 2016, I : Human Mutation. 37, 4, s. 344-349

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. 2015
  25. Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase

    Jouni Valiaho, Imrul Faisal, Csaba Ortutay, C. I. Edvard Smith & Mauno Vihinen, 2015, I : Human Mutation. 36, 6, s. 638-647

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

    Abhishek Niroula & Mauno Vihinen, 2015, I : Human Mutation. 36, 12, s. 1128-1134

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. The importance of proper testing of predictor performance.

    Mauno Vihinen, 2015, I : Human Mutation. 36, 5, s. iii-iiv

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. Varisnp, A Benchmark Database For Variations from dbSNP.

    Gerard Schaafsma & Mauno Vihinen, 2015, I : Human Mutation. 36, 2, s. 161-166

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 2014
  30. Majority Vote and Other Problems when using Computational Tools.

    Mauno Vihinen, 2014, I : Human Mutation. 35, 8, s. 912-914

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions

    Heidi Ali, Siddhaling Urolagin, Omer Gurarslan & Mauno Vihinen, 2014, I : Human Mutation. 35, 7, s. 794-804

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  32. 2013
  33. Guidelines for reporting and using prediction tools for genetic variation analysis

    Mauno Vihinen, 2013, I : Human Mutation. 34, 2, s. 275-282

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. Making Sense of Unclassified Missense Substitutions in MMR Genes.

    Mauno Vihinen, 2013, I : Human Mutation. 34, 1, s. vii

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, Hasnaa Mostafa, Harry Kozakewich, Debra Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John Petty & 62 andra, Zeina Kiblawi, Craig Zuppan, Allyn McConkie-Rosell, Marie T. McDonald, Stacey L. Peterson-Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe S. Friedlich, Stephen R. Hays, Irene Valenzuela Palafoll, Ulrike Siebers-Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane Brumbaugh, Kari Roberts, Ho-ming Luk, Ivan F. M. Lo, Stephen Lam, Romana Gerychova, Marta Jezova, Iveta Valaskova, Florence Fellmann, Katayoun Afshar, Eric Giannoni, Vincent Muhlethaler, Jinlong Liang, Jacques S. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw-Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barrea, Christine Galant, Thierry Detaille, Jennifer A. Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E. M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael L. Baker, Claire Langston, Stephen Welty & Pawel Stankiewicz, 2013, I : Human Mutation. 34, 6, s. 801-811

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. VariBench: A Benchmark Database for Variations

    Preethy Sasidharan Nair & Mauno Vihinen, 2013, I : Human Mutation. 34, 1, s. 42-49

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 2012
  38. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    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 & 31 andra, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, 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, Oskar Th Johannsson & SWE-BRCA SWE-BRCA, 2012 apr, I : Human Mutation. 33, 4, s. 690-702 13 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

    Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni J Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin & 28 andra, Vincent Morinière, David Mowat, Luisa Murer, Hiep T Nguyen, Gabriela Peretz-Amit, Eric Pierce, Emily Place, Nancy Rodig, Ann Salerno, Sujatha Sastry, Tadashi Sato, John A Sayer, Gerard C P Schaafsma, Lawrence Shoemaker, David W Stockton, Wen-Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G Weleber, Susan M White, Carolyn Wilson-Brackett, Dina J Zand, Michael Eccles, Lisa A Schimmenti & Laurence Heidet, 2012 mar, I : Human Mutation. 33, 3, s. 457-66

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. Classification of mismatch repair gene missense variants with PON-MMR

    Heidi Ali, Ayodeji Olatubosun & Mauno Vihinen, 2012, I : Human Mutation. 33, 4, s. 642-650

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. Conserved and Quickly Evolving Immunome Genes Have Different Evolutionary Paths

    Csaba Ortutay & Mauno Vihinen, 2012, I : Human Mutation. 33, 10, s. 1456-1463

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. Curating gene variant databases (LSDBs): toward a universal standard.

    Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E M Taschner & Johan T den Dunnen, 2012, I : Human Mutation. 33, 2, s. 291-297

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. Guidelines for establishing locus specific databases.

    Mauno Vihinen, Johan T den Dunnen, Raymond Dalgleish & Richard G H Cotton, 2012, I : Human Mutation. 33, 2, s. 298-305

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    George P. Patrinos, Timothy D. Smith, Heather Howard, Fand Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Rave, Mona O. El-Ruby, Tilak Ram Shrestha, Maria-Jess Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfali, Arleen D. Auerbach, Kevin Carpenter & 18 andra, 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, 2012, I : Human Mutation. 33, 11, s. 1513-1519

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  45. PON-P: Integrated Predictor for Pathogenicity of Missense Variants

    Ayodeji Olatubosun, Jouni Valiaho, Jani Harkonen, Janita Thusberg & Mauno Vihinen, 2012, I : Human Mutation. 33, 8, s. 1166-1174

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. 2011
  47. LOVD v.2.0: the next generation in gene variant databases

    Ivo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, J Celli, Jeroen F J Laros & Johan T den Dunnen, 2011 maj, I : Human Mutation. 32, 5, s. 557-63 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  48. Mutation Update for the PORCN Gene

    Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A. M. M. Mannens, Robert Smigiel & Raoul C. Hennekam, 2011, I : Human Mutation. 32, 7, s. 723-728

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  49. Performance of mutation pathogenicity prediction methods on missense variants.

    Janita Thusberg, Ayodeji Olatubosun & Mauno Vihinen, 2011, I : Human Mutation. 32, 4, s. 358-368

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  50. Searching for the Missing Heritability of Complex Diseases

    Kari Hemminki, Asta Försti, Richard Houlston & Justo Lorenzo Bermejo, 2011, I : Human Mutation. 32, 2, s. 259-262

    Forskningsoutput: TidskriftsbidragLetter

  51. 2010
  52. Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

    Åke Borg, Robert W Haile, Kathleen E Malone, Marinela Capanu, Ahn Diep, Therese Törngren, Sharon Teraoka, Colin B Begg, Duncan C Thomas, Patrick Concannon, Lene Mellemkjaer, Leslie Bernstein, Lina Tellhed, Shanyan Xue, Eric R Olson, Xiaolin Liang, Jessica Dolle, Anne-Lise Børresen-Dale & Jonine L Bernstein, 2010, I : Human Mutation. 31, s. E1200-E1240

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  53. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

    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 & 8 andra, Sue Richards, Daniela Seminara, María-Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship & Richard G H Cotton, 2010, I : Human Mutation. 31, 12, s. 1374-1381

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  54. Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations

    Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann N. Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael Gabbett, Moran Gal, John M., Jr. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh & 33 andra, Robert J. Hopkin, Hulya Kayserili, Alexa M. J. Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep C. Vasudevan, Bernhard Zabel, Janice Zunich, Graeme C. M. Black & Leslie G. Biesecker, 2010, I : Human Mutation. 31, 10, s. 1142-1154

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  55. Performance of protein stability predictors.

    Sofia Khan & Mauno Vihinen, 2010, I : Human Mutation. 31, 6, s. 675-684

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  56. The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

    Heather J Howard, Ourania Horaitis, Richard G H Cotton, Mauno Vihinen, Raymond Dalgleish, Peter Robinson, Anthony J Brookes, Myles Axton, Robert Hoffmann & Sylvie Tuffery-Giraud, 2010, I : Human Mutation. 31, 3, s. 366-367

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  57. 2009
  58. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

    L. Tabatabaie, T. J. De Koning, A. J.J.M. Geboers, I. E.T. Van Den Berg, R. Berger & L. W.J. Klomp, 2009 maj 1, I : Human Mutation. 30, 5, s. 749-756 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  59. A novel mutation in CD40 and its functional characterization.

    Chun-Jian Qi, Lu Zheng, Hong-Bing Ma, Min Fei, Ke-Qing Qian, Bai-Rong Shen, Chang-Ping Wu, Mauno Vihinen & Xue-Guang Zhang, 2009, I : Human Mutation. 30, 6, s. 985-994

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  60. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

    W Edward Visser, Jurgen Jansen, Edith C Frieserna, Monique H. A. Kester, Edna Mancilla, Johan Lundgren, Marjo S. van der Knaap, Roelineke J. Lunsing, Oebele F. Brouwar & Theo J. Visser, 2009, I : Human Mutation. 30, 1, s. 29-38

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  61. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

    Janita Thusberg & Mauno Vihinen, 2009, I : Human Mutation. 30, 5, s. 703-714

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  62. Planning the human variome project: the Spain report.

    Jim Kaput, Richard G H Cotton, Lauren Hardman, Michael Watson, Aida I Al Aqeel, Jumana Y Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D Auerbach, Bharati Bapat, Inge T Bernstein, Jong Bhak, Stacey L Bleoo, Helmut Blöcker, Steven E Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon-Thomsen & 82 andra, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun-Jun Chung, Mireille Claustres, Garry Cutting, Raymond Dalgleish, Johan T den Dunnen, Carlos Díaz, Steven Dobrowolski, M Rosário N dos Santos, Rosemary Ekong, Simon B Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, Maria V Golubenko, Marc S Greenblatt, Ada Hamosh, John M Hancock, Ross Hardison, Terence M Harrison, Robert Hoffmann, Rania Horaitis, Heather J Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong-Young Lee, Vera L Gil-da-Silva-Lopes, Finlay A Macrae, Donna Maglott, Makia J Marafie, Steven G E Marsh, Yoichi Matsubara, Ludwine M Messiaen, Gabriela Möslein, Mihai G Netea, Melissa L Norton, Peter J Oefner, William S Oetting, James C O'Leary, Ana Maria Oller de Ramirez, Mark H Paalman, Jillian Parboosingh, George P Patrinos, Giuditta Perozzi, Ian R Phillips, Sue Povey, Suyash Prasad, Ming Qi, David J Quin, Rajkumar S Ramesar, C Sue Richards, Judith Savige, Dagmar G Scheible, Rodney J Scott, Daniela Seminara, Elizabeth A Shephard, Rolf H Sijmons, Timothy D Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V Tavtigian, Graham R Taylor, Jon Teague, Thoralf Töpel, Mollie Ullman-Cullere, Joji Utsunomiya, Henk J van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K Weber, Meredith Yeager, Young I Yeom, Seon-Hee Yim & Hyang-Sook Yoo, 2009, I : Human Mutation. 30, 4, s. 496-510

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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