Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.
Balasov M et al.
Genetics, 2025
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Li Q et al.
Orphanet Journal of Rare Diseases, 2024
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein.
Balasov M et al.
Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
Zhang W et al.
Acs Chemical Biology, 2015
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.
Shalev SA et al.
American Journal of Medical Genetics. Part A, 2015
A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation.
Bleichert F et al.
Elife, 2013
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
Stiff T et al.
Plos Genetics, 2013
23516378 (PubMed )
Supplement: pgen.1003360.s005.pdf
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
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