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Human Mutation|February 1, 2012
Confirmation of association of FCGR3B but not FCGR3A copy number with susceptibility to autoantibody positive rheumatoid arthritisJames I Robinson, Ian M Carr, Dawn L Cooper, et al.
Human Mutation|February 1, 2012
Analysis of DNA sequence variants detected by high-throughput sequencingDavid R Adams, Murat Sincan, Karin Fuentes Fajardo, et al.
Human Mutation|February 15, 2012
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experienceErin Rooney Riggs, Laird Jackson, David T Miller, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Human Mutation|January 24, 2012
A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouseSohei Kitazawa, Takeshi Kondo, Kiyoshi Mori, et al.
Human Mutation|January 19, 2012
Maps for the world of genomic medicine: the 2011 CSHL Personal Genomes meetingXiangqun Zheng-Bradley, Paul Flicek
Human Mutation|January 19, 2012
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hairGiovanni Battista Ferrero, Gabriele Picco, Giuseppina Baldassarre, et al.
Human Mutation|October 13, 2011
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)Noralane M Lindor, Lucia Guidugli, Xianshu Wang, et al.
Human Mutation|October 13, 2011
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genesAmanda B Spurdle, Sue Healey, Andrew Devereau, et al.
Human Mutation|October 13, 2011
Functional characterization of splicing and ligand-binding domain variants in the LDL receptorAitor Etxebarria, Lourdes Palacios, Marianne Stef, et al.
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