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Genes|December 23, 2020
Bi-Allelic Pathogenic Variations in <i>MERTK</i> Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis PigmentosaCathrine Jespersgaard, Mette Bertelsen, Farah Arif, et al.
Molecular Genetics & Genomic Medicine|December 14, 2016
Usher syndrome in Denmark: mutation spectrum and some clinical observationsShzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, et al.
Pain|February 23, 2018
Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivityArafat Nasser, Anette Torvin Møller, Vibe Hellmund, et al.
Clinical Genetics|June 27, 2026
Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic AtrophyKatrine M Johannesen, Karen Grønskov, Line Kessel, et al.
Scientific Reports|June 20, 2020
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complexThomas Rosengren, Santoesha Nanhoe, Luis Gustavo Dufner de Almeida, et al.
Scientific Reports|February 6, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophyCathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, et al.
Molecular Genetics and Metabolism|March 25, 2017
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complexLisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, et al.
Orphanet Journal of Rare Diseases|January 24, 2012
Clinical expression of Menkes disease in females with normal karyotypeLisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, et al.
Cerebellum (London, England)|July 28, 2021
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 AtaxiaWilliam Kristian Karlsson, Joan Lilja Sunnleyg Højgaard, Anna Vilhelmsen, et al.
Human Mutation|April 18, 2012
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutasePeter Huppke, Cornelia Brendel, Georg Christoph Korenke, et al.
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