Essential Human Mutation Special Issues, FREE Online:

Databases in Neurogenetics - Volume 33, Issue 9 (September 2012)

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

Also see these recent focus 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)

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

June 2013

New Tools of the Trade for Large-scale Collaborative Genome Analysis

Human “Monogenic” Disease Gene Discovery: When Models of Inheritance Go Wrong

May 2013

Novel strategies for classifying splice-site variants of unknown clinical significance in CFTR

April 2013

From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss

In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms

New video highlight created by authors Alexander Bassuk, Benjamin Darbro, and Vinit Mahajan on their recently published Human Mutation paper entitled, "Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy--Walker Malformation and Occipital Cephaloceles."

HGVS Meeting 2013

Clinical Applications of Next Generation Sequencing
8th June 2013
Hotel Concorde La Fayette, Paris, France

Upcoming Meeting

5th Pan Arab Human Genetics Conference
in Collaboration with the 2013 Golden Helix Symposium

17-19 November 2013
Al Bustan Rotana, Dubai

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