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Human Mutation|July 24, 2019
Reports from the fifth edition of CAGI: The Critical Assessment of Genome InterpretationGaia Andreoletti, Lipika R Pal, John Moult, et al.Human Mutation|July 20, 2019
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseasesLaura Kasak, Jesse M Hunter, Rupa Udani, et al.Human Mutation|July 19, 2019
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equationPanagiotis Katsonis, Olivier LichtargeHuman Mutation|July 26, 2019
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classificationMelissa A Gilbert, Robert C Bauer, Ramakrishnan Rajagopalan, et al.Human Mutation|February 3, 2017
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey GenocopyPatrick M A Sleiman, Michael March, Kenny Nguyen, et al.Human Mutation|July 14, 2019
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technologyElisa Goina, Lorena Musco, Andrea Dardis, et al.Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.Human Mutation|January 15, 2017
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter RegionKohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, et al.Human Mutation|September 28, 2016
mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via ClassificationsZhongshan Li, Zhenwei Liu, Yi Jiang, et al.Human Mutation|January 31, 2014
Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biologyJulia Falk, Magdalena Rohde, Mohamed M Bekhite, et al.Pageof 578