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Human Mutation|February 19, 2013
Novel CYP2B6 enzyme variants in a Rwandese population: functional characterization and assessment of in silico prediction toolsRobert Radloff, Alain Gras, Ulrich M Zanger, et al.
Human Mutation|February 20, 2013
Identification of functional cis-regulatory polymorphisms in the human genomeIvan Molineris, Davide Schiavone, Fabio Rosa, et al.
Human Mutation|July 3, 2013
Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individualsChristopher A Cassa, Mark Y Tong, Daniel M Jordan
Human Mutation|July 19, 2013
In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAsLorea Blázquez, Ana Aiastui, Maria Goicoechea, et al.
Human Mutation|January 26, 2013
Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communicationYiguo Sun, Yi-Qing Yang, Xiang-Qun Gong, et al.
Human Mutation|January 26, 2013
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicingJoakim Klar, Maria Sobol, Atle Melberg, et al.
Human Mutation|January 29, 2013
DIP-STR: highly sensitive markers for the analysis of unbalanced genomic mixturesVincent Castella, Joëlle Gervaix, Diana Hall
Human Mutation|January 3, 2013
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architectureAlessandro Romano, Alessandra Tessa, Amilcare Barca, et al.
Human Mutation|January 3, 2013
Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblastsTomohiro Hori, Toshiyuki Fukao, Keiko Murase, et al.
Human Mutation|January 3, 2013
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutationsFrancesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, et al.
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