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Human Mutation|December 2, 2010
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patientsVirginie Caux-Moncoutier, Laurent Castéra, Carole Tirapo, et al.
Human Mutation|December 2, 2010
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variantsMinttu Kansikas, Reetta Kariola, Minna Nyström
Human Mutation|December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndromeAlexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.
Human Mutation|December 2, 2010
Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegenerationSilvia C Lenzken, Valentina Romeo, Francesca Zolezzi, et al.
Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
Human Mutation|June 1, 2010
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasiaAlex Staffler, Markus Hammel, Mandy Wahlbuhl, et al.
Human Mutation|June 1, 2010
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1Allan J Richards, Annie McNinch, Howard Martin, et al.
Human Mutation|June 1, 2010
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityLogan C Walker, Phillip J Whiley, Fergus J Couch, et al.
Human Mutation|June 1, 2010
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotypeEric Pasmant, Audrey Sabbagh, Gill Spurlock, et al.
Human Mutation|June 1, 2010
An interactive web-tool for molecular analyses links naturally occurring mutation data with three-dimensional structures of the rhodopsin-like glycoprotein hormone receptorsGunnar Kleinau, Annika Kreuchwig, Catherine L Worth, et al.
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