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Human Mutation|March 17, 2020
LEAP: Using machine learning to support variant classification in a clinical settingCarmen Lai, Anjali D Zimmer, Robert O'Connor, et al.Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.Human Mutation|December 5, 2019
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findingsLuiz G Dufner Almeida, Santoesha Nanhoe, Andrea Zonta, et al.Human Mutation|February 15, 2020
Exome sequencing identifies the first genetic determinants of sirenomelia in humansFrançois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, et al.Human Mutation|January 14, 2020
A protein-centric approach for exome variant aggregation enables sensitive association analysis with clinical outcomesGinny X H Li, Dan Munro, Damian Fermin, et al.Human Mutation|January 14, 2020
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathicaHassan Vahidnezhad, Leila Youssefian, Soheila Sotoudeh, et al.Human Mutation|January 14, 2020
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractionsNicolas Doisne, Victor Waldmann, Alban Redheuil, et al.Human Mutation|January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduriaMatthias Zielonka, Sven F Garbade, Florian Gleich, et al.Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.Human Mutation|February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophyRaquel S Silva, Gavin Arno, Valentina Cipriani, et al.Pageof 574