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Human Mutation|March 31, 2012
Inherited deleterious variants in GALNT12 are associated with CRC susceptibilityErica Clarke, Roger C Green, Jane S Green, et al.Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.Human Mutation|February 1, 2012
Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) studyJihye Ryu, Chaeyoung LeeHuman Mutation|February 1, 2012
Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cellsRudolf Arlanov, Andrew Porter, Dennis Strand, et al.Human Mutation|April 8, 2011
Mutation update for the PORCN geneMaria Paola Lombardi, Saskia Bulk, Jacopo Celli, et al.Human Mutation|August 19, 2011
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarraysDamien L Bruno, Zornitza Stark, David J Amor, et al.Human Mutation|September 22, 2011
Kindler syndrome: extension of FERMT1 mutational spectrum and natural historyCristina Has, Daniele Castiglia, Marcela del Rio, et al.Human Mutation|September 8, 2011
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedemaAmy L Cilia La Corte, Angela M Carter, Gillian I Rice, et al.Human Mutation|September 8, 2011
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndromeAsma Chaoui, Yuli Watanabe, Renaud Touraine, et al.Human Mutation|September 8, 2011
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytesTakuro Arimura, Taisuke Ishikawa, Shinichi Nunoda, et al.Pageof 583