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Human Mutation|July 28, 2011
FAS mRNA editing in Human Systemic Lupus ErythematosusJianming Wu, Fenglong Xie, Kun Qian, et al.Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.Human Mutation|November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationIsabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.Human Mutation|September 9, 2011
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutationsAdriaan G Holleboom, Jan A Kuivenhoven, Frank Peelman, et al.Human Mutation|September 9, 2011
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosisXia Wang, Hui Wang, Ming Cao, et al.Human Mutation|September 9, 2011
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defectsCiprian M Bosoi, Valeria Capra, Redouane Allache, et al.Human Mutation|September 9, 2011
Competitive amplification of differentially melting amplicons (CADMA) enables sensitive and direct detection of all mutation types by high-resolution melting analysisLasse S Kristensen, Gitte B Andersen, Henrik Hager, et al.Human Mutation|September 8, 2011
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertensionMd Talat Nasim, Takeshi Ogo, Mohammad Ahmed, et al.Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.Human Mutation|July 29, 2011
A mutation in SCARB2 is a modifier in Gaucher diseaseArash Velayati, John DePaolo, Nidhi Gupta, et al.Pageof 574