Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Vol. 33 Issue 6

Edited By: Richard G.H. Cotton and Garry R. Cutting

Impact Factor: 5.956

ISI Journal Citation Reports © Ranking: 2010: 18/156 (Genetics & Heredity)

Online ISSN: 1098-1004

Recently Published Issues

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  • Current Issue:June 2012

    Volume 33, Issue 6

    Special Issue: Focus on CNV Detection with Diagnos...

  • May 2012

    Volume 33, Issue 5

    Special Issue: Deep Phenotyping for Precision Medi...

  • April 2012

    Volume 33, Issue 4

    Special Issue: Focus on the NIH Undiagnosed Diseas...

  • March 2012

    Volume 33, Issue 3

  • February 2012

    Volume 33, Issue 2

2012 Special Issues

Essential Human Mutation Special Issues, FREE Online:

Deep Phenotyping for Precision Medicine - Volume 33, Issue 5 (May 2012)

Also see these other recent special article sections:

Focus on CNV Detection with Diagnostic Arrays - Volume 33, Issue 6 (June 2012)

Focus on the NIH Undiagnosed Diseases Program - Volume 33, Issue 4 (April 2012)

Upcoming feature:

Special Issue on Neurogenetics - (coming in Fall 2012)

"IN THIS ISSUE" Featured Articles

Free access “In This Issue” essays spotlight notable articles in Human Mutation issues.


June 2012

Retinitis pigmentosa: More genes, more variants, more work

Reading through nonsense as therapy for propionic acidemia?

April 2012

Actin out with filamin: Two sides of the story

KMD: A country-specific genetic variation resource for Korea

March 2012

Looks normal, but may not function properly: A "new" mouse model for primary ciliary dyskinesia

Olfactory cells aid in the understanding of neurodegenerative disorders

New Video Highlight

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New video highlight created by author David Masica on his recently published Human Mutation paper entitled "Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis."

New Virtual Issue

Please see the new Virtual Issue, "Recommendations and Standards for the Reporting and Databasing of Genetic Variations", guest edited by Johan den Dunnen and Mauno Vihinen. Articles in this Virtual Issue have been made freely available online.

See also this valuable Virtual Issue on assessing pathogenicity of gene variants – also free online

HVP Special Issue

Human Variome Project

Special Issue: Bioinformatics for Human Genetics: Promises and Challenges, A Human Variome Project Special Issue (May 2011)


Guest edited by Annika Lindblom and Peter N. Robinson

See also this article summarizing the HVP Paris 2010 meeting from which this special issue was derived.

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