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Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Human Mutation|February 20, 2013
Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 exampleSylvia De Brakeleer, Jacques De Grève, Willy Lissens, et al.
Human Mutation|February 20, 2013
Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assayDavid A Zeevi, Paul Renbaum, Raphael Ron-El, et al.
Human Mutation|February 20, 2013
Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer diseaseRachele Cagliani, Franca R Guerini, Raquel Rubio-Acero, et al.
Human Mutation|January 26, 2013
Prediction of mutant mRNA splice isoforms by information theory-based exon definitionEliseos J Mucaki, Ben C Shirley, Peter K Rogan
Human Mutation|January 26, 2013
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemiaKevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, et al.
Human Mutation|January 15, 2013
HGV2012: leveraging next-generation technology and large datasets to advance disease researchNina Gonzaludo, Hong-Xiang Zheng, Jiucun Wang, et al.
Human Mutation|January 15, 2013
Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic settingJosé Luis Costa, Sónia Sousa, Ana Justino, et al.
Human Mutation|January 15, 2013
RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPsRadhakrishnan Sabarinathan, Hakim Tafer, Stefan E Seemann, et al.
Human Mutation|December 21, 2012
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian familyKate J Laurie, Alpana Dave, Tania Straga, et al.
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