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Human Mutation|May 31, 2012
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1)Chou Hung Sim, Kipros Gabriel, Ryan D Mills, et al.Human Mutation|May 31, 2012
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse modelChristineh N Sarkissian, Ming Ying, Tanja Scherer, et al.Human Mutation|June 14, 2012
ABCMdb: a database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general applicationGergely Gyimesi, Dávid Borsodi, Hajnalka Sarankó, et al.Human Mutation|June 9, 2012
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomesAyman El-Seedy, Emmanuelle Girodon, Caroline Norez, et al.Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.Human Mutation|November 20, 2012
Functional characterization of novel mutations affecting survivin (BIRC5)-mediated therapy resistance in head and neck cancer patientsShirley K Knauer, Britta Unruhe, Sarah Karczewski, et al.Human Mutation|November 22, 2012
Guidelines for reporting and using prediction tools for genetic variation analysisMauno VihinenHuman Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.Human Mutation|May 11, 2012
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBChristelle Borel, Eugenia Migliavacca, Audrey Letourneau, et al.Human Mutation|August 16, 2013
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneJonathan K Alder, Erin M Parry, Srinivasan Yegnasubramanian, et al.Pageof 583