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Human Mutation|March 3, 1998
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expressionK M Timms, L E Huckett, J W Belmont, et al.Human Mutation|March 3, 1998
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groupsH Kalinsky, A Funes, A Zeldin, et al.Human Mutation|March 3, 1998
Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindredK Saarinen, H Swan, K Kainulainen, et al.Human Mutation|May 9, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL MutationsSimone Martinelli, Emilia Stellacci, Luca Pannone, et al.Human Mutation|April 26, 2020
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndromeDaniele Galatolo, Molly E Kuo, Patrick Mullen, et al.Human Mutation|May 9, 2020
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significanceMonica H N Thai, Alison Gardner, Laura Redpath, et al.Human Mutation|August 18, 2021
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approachÁgnes Mikó, Ambrus Kaposi, Karolina Schnabel, et al.Human Mutation|August 18, 2021
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.Pageof 583