Associated Papers
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Multiple, short protein binding motifs in ORC1 and CDC6 control the initiation of DNA replication.
Hossain M et al.
Molecular Cell, 2021
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Structure of the active form of human origin recognition complex and its ATPase motor module.
Tocilj A et al.
Elife, 2017
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
Zhang W et al.
Acs Chemical Biology, 2015
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
Kerzendorfer C et al.
Dna Repair, 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
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
Hossain M et al.
Genes & Development, 2012
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL et al.
Nature Genetics, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
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