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Human Mutation|April 14, 2016
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder AllelesSven Günther, Ewelina Elert-Dobkowska, Anne S Soehn, et al.Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.Human Mutation|August 28, 2015
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype CorrelationBraden S Jensen, Tobias Willer, Dimah N Saade, et al.Human Mutation|November 5, 2015
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ FunctionEmily S Noël, Tarek S Momenah, Khalid Al-Dagriri, et al.Human Mutation|November 6, 2015
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse PopulationErin E Hughes, Colleen F Stevens, Carlos A Saavedra-Matiz, et al.Human Mutation|October 29, 2015
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia PatientsRebeca Vindas-Smith, Michele Fiore, Melissa Vásquez, et al.Human Mutation|August 22, 2015
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL AssociationAlina C Hilger, Jan Halbritter, Tracie Pennimpede, et al.Human Mutation|June 10, 2016
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA SyndromeTarja Linnankivi, Nirajan Neupane, Uwe Richter, et al.Human Mutation|May 7, 2019
The TALE homeodomain of PBX1 is involved in human primary testis-determinationCaroline Eozenou, Anu Bashamboo, Joelle Bignon-Topalovic, et al.Human Mutation|May 10, 2019
Predicting the change of exon splicing caused by genetic variant using support vector regressionKen Chen, Yutong Lu, Huiying Zhao, et al.Pageof 577