Publications

Export 1569 results:
Author Title [ Year(Desc)]
Filters: First Letter Of Last Name is C  [Clear All Filters]
2021
Zhao, S. et al. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Zhao, S. et al. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
White, S. M. et al. A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
Rickman, O. J. et al. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord 82, 84-86 (2021).
Rickman, O. J. et al. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord 82, 84-86 (2021).
Reis, L. M. et al. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet 99, 437-442 (2021).
D'Gama, A. M. et al. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A 185, 203-207 (2021).
Järvelä, I. et al. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet (2021). doi:10.1007/s00439-021-02268-1
Diez-Fairen, M. et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Diez-Fairen, M. et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Diez-Fairen, M. et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Diez-Fairen, M. et al. Exome-wide rare variant analysis in familial essential tremor. Parkinsonism Relat Disord 82, 109-116 (2021).
Alsharhan, H. et al. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis (2021). doi:10.1002/jimd.12367
Wahlster, L. et al. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med 218, (2021).
Wahlster, L. et al. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med 218, (2021).
Wahlster, L. et al. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med 218, (2021).
Wahlster, L. et al. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med 218, (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Kasela, S. et al. Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
Wei, C. - Y. et al. Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ Genom Med 6, 10 (2021).
Wei, C. - Y. et al. Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ Genom Med 6, 10 (2021).
Hansen, A. W. et al. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv 2, (2021).
Drzewiecki, K. et al. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med 218, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Ebert, P. et al. Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Lévy, R. et al. IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2. J Clin Immunol 41, 26-27 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
Novelli, G. et al. Inhibition of HECT E3 ligases as potential therapy for COVID-19. Cell Death Dis 12, 310 (2021).
van der Wijst, M. G. P. et al. Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19. bioRxiv (2021). doi:10.1101/2021.03.09.434529
van der Wijst, M. G. P. et al. Longitudinal single-cell epitope and RNA-sequencing reveals the immunological impact of type 1 interferon autoantibodies in critical COVID-19. bioRxiv (2021). doi:10.1101/2021.03.09.434529

Pages