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Human Mutation
JournalCitation impact & published research
Human Mutation is a journal indexed in ScholarIQ from OpenAlex.
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The OpenAlex for Human Mutation is on the source record.
What are the most-cited papers on Human Mutation?
ScholarIQmost cited works
Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening
Joseph L. Bobadilla, Milan Maçek, Jason P. Fine, Philip M. Farrell
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Catherine L. Bladen, David Salgado, Soledad Monges, María Eugenia Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, H.S. Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lähdetie, Maggie C. Walter, Olivia Schreiber‐Katz, Veronika Karcagi, Marta Garami, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, En Kimura, Zaïda Koeks, J.C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Łusakowska, Anna Kostera‐Pruszczyk, Janusz Zimowski, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milić Rašić, Dina Vojinović, Manuel Posada de la Paz, Clemens Bloetzer, P.Y. Jeannet, Franziska Joncourt, Jordi Díaz‐Manera, Eduard Gallardo, Ayşen Karaduman, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy Shatillo, Ann Martin, Holly L. Peay, M. Bellgard, Janbernd Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Jan J.G.M. Verschuuren, Annemieke Aartsma‐Rus, Christophe Béroud, Hanns Lochmüller
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
Fan Chen, Takeshi Kishida, Masahiro Yao, Thomas P. Hustad, Damjan Glavač, Michael Dean, James R. Gnarra, Mary Lou Orcutt, Fuh Mei Duh, G.M. Glenn, Jane Green, Y. Edward Hsia, James M. Lamiell, Hua Li, Ming Wei, Laura S. Schmidt, Kálmán Tory, Igor Kuzmin, Tom Stackhouse, Farida Latif, W. Marston Linehan, Michael I. Lerman, Berton Zbar
Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines
Pedro P. Medina, Octavio A. Romero, Takashi Kohno, Luis M. Montuenga, Rubén Pı́o, Jun Yokota, Montse Sánchez‐Céspedes
A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl‐Schmid, Alexandre de Mendonça, Gábriel Miltenberger-Miltényi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei‐Hsin Chiang, Marie Westerlund, Raquel Sánchez‐Valle, Albert Lladó, Ellen Gelpí, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni B. Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Lüdger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matěj, Eva Parobková, Gábor G. Kovács, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Éric Salmon, Patrick Santens, Jean‐Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Marc Cruts, Julie van der Zee, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Marc Cruts, Christine Van Broeckhoven, Tim Van Langenhove, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Marc Cruts, Christine Van Broeckhoven, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani