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Human Mutation|May 4, 2011
Deficiency in DNA mismatch repair increases the rate of telomere shortening in normal human cellsAaron Mendez-Bermudez, Nicola J RoyleHuman Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.Human Mutation|April 27, 2011
LOVD v.2.0: the next generation in gene variant databasesIvo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, et al.Human Mutation|May 28, 2011
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical managementNathalie Roux-Buisson, John Rendu, Isabelle Denjoy, et al.Human Mutation|May 28, 2011
A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese womenYin Liu, Ji Liao, Ye Xu, et al.Human Mutation|November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletionsAntje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.Human Mutation|November 3, 2011
Hansa: an automated method for discriminating disease and neutral human nsSNPsVishal Acharya, Hampapathalu A NagarajaramHuman Mutation|November 8, 2011
The COL7A1 mutation databaseKatarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, et al.Human Mutation|November 19, 2011
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humansAnne M Slavotinek, Ryan Chao, Tomas Vacik, et al.Human Mutation|November 19, 2011
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl LevelsRoeland Huijgen, Barbara Sjouke, Kelly Vis, et al.Pageof 583