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Human Mutation|July 29, 2011
Prediction of functional regulatory SNPs in monogenic and complex diseaseYiqiang Zhao, Wyatt T Clark, Matthew Mort, et al.
Human Mutation|July 29, 2011
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian familyFilomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Human Mutation|August 20, 2011
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited diseaseDavid N Cooper, Albino Bacolla, Claude Férec, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Human Mutation|May 21, 2011
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseaseXiaoyang Wu, Evan Katz, Maria Cecilia Della Valle, et al.
Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
Human Mutation|May 28, 2011
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type IAnnelies Rotthier, Anke Penno, Bernd Rautenstrauss, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Human Mutation|April 12, 2011
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Byung-Ok Choi, Sung Hee Kang, Young Se Hyun, et al.
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