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Human Mutation|February 27, 2013
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung diseaseIvana Matera, Marco Musso, Paola Griseri, et al.
Human Mutation|April 19, 2013
Prioritization of genetic variants in the microRNA regulome as functional candidates in genome-wide association studiesBrendan Bulik-Sullivan, Sara Selitsky, Praveen Sethupathy
Human Mutation|April 23, 2013
A polymorphism affecting MYB binding within the promoter of the PDCD4 gene is associated with severe asthma in childrenAristea Binia, Nicole Van Stiphout, Liming Liang, et al.
Human Mutation|April 23, 2013
Patterns and mutational signatures of tandem base substitutions causing human inherited diseaseJian-Min Chen, Claude Férec, David N Cooper
Human Mutation|May 25, 2013
Rare nonconservative LRP6 mutations are associated with metabolic syndromeRajvir Singh, Emily Smith, Mohsen Fathzadeh, et al.
Human Mutation|May 29, 2013
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutationsAileen M Barnes, Geraldine Duncan, Maryann Weis, et al.
Human Mutation|June 15, 2013
Genetic abnormalities in FOXP1 are associated with congenital heart defectsSheng-Wei Chang, Mona Mislankar, Chaitali Misra, et al.
Human Mutation|June 19, 2013
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratoriesMarjan M Weiss, Bert Van der Zwaag, Jan D H Jongbloed, et al.
Human Mutation|February 6, 2013
An MLPA-based strategy for discrete CNV genotyping: CNV-miRNAs as an exampleMalgorzata Marcinkowska-Swojak, Barbara Uszczynska, Marek Figlerowicz, et al.
Human Mutation|February 6, 2013
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathyTorsten B Rasmussen, Johan Palmfeldt, Peter H Nissen, et al.
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