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Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, et al.Human Mutation|February 9, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screeningDouglas O S de Faria, Stijn L M In 't Groen, Marianne Hoogeveen-Westerveld, et al.Human Mutation|January 13, 2021
The genomic landscape of pediatric rheumatology disorders in the Middle EastBasil M Fathalla, Ali Alsarhan, Samina Afzal, et al.Human Mutation|December 24, 2016
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral SclerosisJulie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, et al.Human Mutation|December 14, 2016
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology InsightsSirawit Ittisoponpisan, Eman Alhuzimi, Michael J E Sternberg, et al.Human Mutation|December 14, 2016
Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer RiskNardin Samuel, Badr Id Said, Tanya Guha, et al.Human Mutation|October 22, 2016
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian CarcinomasRobbert D A Weren, Arjen R Mensenkamp, Michiel Simons, et al.Human Mutation|October 25, 2016
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDGPatricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, et al.Human Mutation|December 24, 2016
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity ClassificationShin-Ya Nishio, Shin-Ichi UsamiHuman Mutation|December 8, 2016
SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing MutationsKatherine E Badior, Kumari Alka, Joseph R CaseyPageof 583