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Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.Human Mutation|August 30, 2014
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genesElizabeth K Flynn, Aparna Kamat, Francis P Lach, et al.Human Mutation|September 18, 2015
Mitigating false-positive associations in rare disease gene discoverySebastian Akle, Sung Chun, Daniel M Jordan, et al.Human Mutation|November 11, 2015
Correction of a Cystic Fibrosis Splicing Mutation by Antisense OligonucleotidesSusana Igreja, Luka A Clarke, Hugo M Botelho, et al.Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.Human Mutation|February 27, 2016
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment SchemeZandra C Deans, Jennifer A Fairley, Johan T den Dunnen, et al.Human Mutation|March 19, 2016
Variation Interpretation Predictors: Principles, Types, Performance, and ChoiceAbhishek Niroula, Mauno VihinenHuman 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.Pageof 582