Associated Papers
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
Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.
Weller K et al.
Prenatal Diagnosis, 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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA et al.
American Journal of Medical Genetics. Part A, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA et al.
European Journal of Human Genetics : Ejhg, 2012
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