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
A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K et al.
European Journal of Human Genetics : Ejhg, 2024
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
Nielsen-Dandoroff E et al.
European Journal of Human Genetics : Ejhg, 2023
Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.
Sanchez JC et al.
Plos Genetics, 2017
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Fenwick AL et al.
American Journal of Human Genetics, 2016
Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.
Lips EH et al.
Breast Cancer Research : Bcr, 2015
26433948 (PubMed )
Supplement: 13058_2015_642_MOESM4_ESM.xlsx › somatic_variants_proposal2.txt
Select a paper to view details