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Human Mutation|May 23, 2012
ApiNATOMY: a novel toolkit for visualizing multiscale anatomy schematics with phenotype-related informationBernard de Bono, Pierre Grenon, Stephen John SammutHuman Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.Human Mutation|May 22, 2012
Identification of novel rare mutations of DACT1 in human neural tube defectsYan Shi, Yi Ding, Yun-Ping Lei, et al.Human Mutation|March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov, Xinjing Wang, Chen Wang, et al.Human Mutation|March 19, 2013
Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delayWilliam Grey, Louise Izatt, Wafa Sahraoui, et al.Human Mutation|March 20, 2013
Prioritization of retinal disease genes: an integrative approachAlex H Wagner, Kyle R Taylor, Adam P DeLuca, et al.Human Mutation|April 13, 2012
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumbTobias Laurell, Julia E Vandermeer, Aaron M Wenger, et al.Human Mutation|April 21, 2012
NGS catalog: A database of next generation sequencing studies in humansJunfeng Xia, Qingguo Wang, Peilin Jia, et al.Human Mutation|May 1, 2012
Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9An-Ping Chen, Min-Hwang Chang, Michael F RomeroHuman Mutation|December 23, 2011
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cellsNathalie Boone, Aurélie Bergon, Béatrice Loriod, et al.Pageof 577