Human Mutation is a peer-reviewed journal that offers publication of original research & reviews on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered.

The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.

Sections include:

Methodology
	Gene function
	Databases and bioinformatic tools
	Gene and phenotype
	Diagnostics

EDITOR-IN-CHIEF
Garry R. Cutting (McKusick-Nathans Institute of Genetic Medicine, Departments of Pediatrics and Medicine, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA)
DEPUTY EDITORS
Johan T. den Dunnen (Department of Human & Clinical Genetics, Leiden University Medical Center, Nederland)
Nancy B. Spinner (The Children’s Hospital of Philadelphia and The Perelman School of Medicine at The University of Pennsylvania, USA)
FOUNDING CO-EDITORS
Richard G.H. Cotton (1940-2015)
Haig H. Kazazian, Jr.
COMMUNICATING EDITORS
Stylianos E. Antonarakis (University of Geneva, Switzerland)
Christophe Béroud (Aix-Marseille University Medical School, France)
Lars Bertram (Max Planck Institute for Molecular Genetics, Berlin, Germany)
Anthony J. Brookes (University of Leicester, UK)
Peter H. Byers (University of Washington School of Medicine, Seattle, USA)
Stephen J. Chanock (National Cancer Institute, Gaithersburg, Maryland, USA)
Jian-Min Chen (University of Western Brittany, Brest, France)
Georgia Chenevix-Trench (QIMR Berghofer, Brisbane, Australia)
David N. Cooper (Cardiff University, Wales, UK)
Raymond Dalgleish (University of Leicester, UK)
Michael Dean (National Cancer Institute, Gaithersburg, Maryland, USA)
Elfride De Baere (Ghent University, Belgium)
Albert de la Chapelle (Ohio State University, Columbus, USA)
Xavier Estivill (Centre for Genomic Regulation, Barcelona, Spain)
Claude Férec (University of Western Brittany, Brest, France)
Riccardo Fodde (Erasmus Medical Center, Rotterdam, Netherlands)
Paolo M. Fortina (Thomas Jefferson University, Philadelphia, Pennsylvania, USA)
Arupa Ganguly (University of Pennsylvania, Philadelphia, USA)
Maurizio Genuardi (Institute of Medical Genomics at the Catholic University, Rome, Italy)
Richard A. Gibbs (Baylor College of Medicine, Houston, Texas, USA)
Bruce Gottlieb (McGill University, Montreal, Québec, Canada)
Marc S. Greenblatt (University of Vermont Medical Center, Burlington, USA)
Madhuri Hegde (Emory University, Atlanta, Georgia, USA)
Jürgen Horst (University of Münster, Germany)
Daniel P. Judge (Medical University of South Carolina, Charleston, USA)
Rachel Karchin (Johns Hopkins University, Baltimore, Maryland, USA)
Haig H. Kazazian, Jr. (Johns Hopkins University, Baltimore, Maryland, USA)
Hildegard Kehrer-Sawatzki (Ulm University, Germany)
Viktor Kožich (Charles University-First Faculty of Medicine, and General University Hospital, Prague, Czech Republic)
Pui-Yan Kwok (University of California, San Francisco, USA)
Ulf Landegren (Uppsala University, Sweden)
Finlay A. Macrae (University of Melbourne, Australia)
John McVey (University of Surrey, UK)
Arnold Munnich (Université Sorbonne Nouvelle, Paris, France)
Peter J. Oefner (University of Regensburg, Germany)
William S. Oetting (University of Minnesota, Minneapolis, USA)
Sergio Ottolenghi (University of Milano-Bicocca, Milan, Italy)
Maria Rita Passos-Bueno (University of São Paulo, Brazil)
George P. Patrinos (University of Patras, Greece)
Reed E. Pyeritz (University of Pennsylvania, Philadelphia, USA)
Ming Qi (Zhejiang University School of Medicine, Hangzhou, China)
Stephen Robertson (University of Otago, Dunedin, New Zealand)
Peter N. Robinson (Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA)
Peter K. Rogan (University of Western Ontario, London, Canada)
David S. Rosenblatt (McGill University, Montreal, Québec, Canada)
Ravi Savarirayan (Murdoch Childrens Research Institute, Melbourne, Australia)
Daniel F. Schorderet (Institute for Research in Ophthalmology, Sion, Switzerland)
Hamish S. Scott (University of Adelaide, Australia)
Rolf H. Sijmons (University of Groningen, Netherlands)
María-Jesús Sobrido (University of Santiago de Compostela, Spain)
Thierry Soussi (Karolinska Institute, Stockholm, Sweden)
Sean V. Tavtigian (University of Utah, Salt Lake City, USA)
Graham R. Taylor (University of Melbourne, Australia)
Mauno Vihinen  (Lund University, Sweden)
Paul Waring (Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia)
Hans R. Waterham (Academic Medical Center, Amsterdam, Netherlands)
Johannes Zschocke (Medical University of Innsbruck, Austria)