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Human Mutation|February 10, 2011
Heterogeneity in the processing of CLCN5 mutants related to Dent diseaseTeddy Grand, Sébastien L'Hoste, David Mordasini, et al.Human Mutation|February 10, 2011
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry diseaseRobert Dobrovolny, Irina Nazarenko, Jungmin Kim, et al.Human Mutation|February 11, 2011
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activityChi A Ma, Hong-Ying Wang, Stephane Temmerman, et al.Human Mutation|February 11, 2011
Databases in the area of pharmacogeneticsSarah C Sim, Russ B Altman, Magnus Ingelman-SundbergHuman Mutation|February 11, 2011
Emerging landscape of genomics in the Electronic Health Record for personalized medicineMollie H Ullman-Cullere, Jomol P MathewHuman Mutation|February 11, 2011
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6Michela Raponi, Jana Kralovicova, Ellen Copson, et al.Human Mutation|November 20, 2010
Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO studyGaëlle Marenne, Benjamín Rodríguez-Santiago, Montserrat García Closas, et al.Human Mutation|February 1, 2011
Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumorsSalvador Rodriguez-Nieto, Andres Cañada, Eva Pros, et al.Human Mutation|December 2, 2010
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model systemSophie Monnot, Nadine Gigarel, David C Samuels, et al.Human Mutation|December 2, 2010
Statistical inference of allelic imbalance from transcriptome dataMichael Nothnagel, Andreas Wolf, Alexander Herrmann, et al.Pageof 583