Human Mutation

Cover image for Vol. 38 Issue 2

Edited By: Garry R. Cutting

Impact Factor: 5.089

ISI Journal Citation Reports © Ranking: 2015: 23/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Just Published Articles

  1. Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes and Structural Considerations

    Carmen Diez-Fernandez, Véronique Rüfenacht and Johannes Häberle

    Accepted manuscript online: 23 JAN 2017 04:25AM EST | DOI: 10.1002/humu.23184

  2. Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

    Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang and Kelly D. Farwell Hagman

    Accepted manuscript online: 20 JAN 2017 08:20AM EST | DOI: 10.1002/humu.23183

  3. You have full text access to this OnlineOpen article
    TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpi, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl-Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Ludger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gabriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramirez, Frank Jessen, Michael T. Heneka, Estrella Gómez-Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter P. De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, Marc Bruyland, Christiana Willems, Eric Salmon, Pau Pastor, Sara Ortega-Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Mercè Boada, Agustín Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sanchez-Valle, Albert Llado, Isabel Santana, Maria Rosário Almeida, Giovanni B Frisoni, Walter Maetzler, Radoslav Matej, Matthew J. Fraidakis, Gabor G. Kovacs, Gian Maria Fabrizi and Silvia Testi

    Version of Record online: 19 JAN 2017 | DOI: 10.1002/humu.23161

  4. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

    Marisa I Mendes, Desirée EC Smith, Ana Pop, Pascal Lennertz, Matilde R Fernandez Ojeda, Warsha A. Kanhai, Silvy J.M. van Dooren, Yair Anikster, Ivo Barić, Carolien Boelen, Jaime Campistol, Lonneke de Boer, Ariana Kariminejad, Hulya Kayserili, Agathe Roubertie, Krijn T Verbruggen, Christine Vianey-Saban, Monique Williams and Gajja S Salomons

    Accepted manuscript online: 19 JAN 2017 02:20AM EST | DOI: 10.1002/humu.23181

  5. Blind Prediction of Deleterious Amino Acid Variations with SNPs&GO

    Emidio Capriotti, Pier Luigi Martelli, Piero Fariselli and Rita Casadio

    Accepted manuscript online: 19 JAN 2017 02:20AM EST | DOI: 10.1002/humu.23179

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New video highlight created by Lusine Nazaryan-Petersen on her recently published Human Mutation paper entitled, "Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination."

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