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Human Mutation|July 13, 2019
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndromeMayukh Banerjee, Denis Arutyunov, Daniel Brandwein, et al.Human Mutation|July 14, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variantsLaura Kasak, Constantina Bakolitsa, Zhiqiang Hu, et al.Human Mutation|July 27, 2019
Checklist for gene/disease-specific variation database curators to enable ethical data managementRosemary Ekong, Mauno VihinenHuman Mutation|July 27, 2019
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, et al.Human Mutation|January 20, 2017
Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV SeriesNzar A A Shwan, Sandra Louzada, Fengtang Yang, et al.Human Mutation|January 24, 2017
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural ConsiderationsCarmen Diez-Fernandez, Véronique Rüfenacht, Johannes HäberleHuman Mutation|January 21, 2017
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and ReclassificationsErica D Smith, Kelly Radtke, Mari Rossi, et al.Human Mutation|December 25, 2007
Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchartOlivier M Vanakker, Bart P Leroy, Paul Coucke, et al.Human Mutation|January 22, 2008
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formationSheron Perera, Bharati BapatHuman Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.Pageof 583