A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

Initiation-specific alleles of the Cdc45 helicase-activating protein

(2019) Ramon Y. Rios-Morales et al.   PLoS One

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature

(2019) Chun Yi Ting et al.   European Journal of Medical Genetics

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

(2019) Marta Unolt et al.   GENETICS IN MEDICINE

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

(2019) Karen M Knapp et al.   JOURNAL OF MEDICAL GENETICS

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

(2016) Aimee L. Fenwick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structure of human Cdc45 and implications for CMG helicase function

(2016) Aline C. Simon et al.   Nature Communications

Meier-Gorlin syndrome

(2015) Sonja A. de Munnik et al.   Orphanet Journal of Rare Diseases

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cdc45: the missing RecJ ortholog in eukaryotes?

(2011) Luis Sanchez-Pulido et al.   BIOINFORMATICS

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

(2011) Michela Raponi et al.   HUMAN MUTATION

Activation of the MCM2-7 Helicase by Association with Cdc45 and GINS Proteins

(2010) Ivar Ilves et al.   MOLECULAR CELL

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Rapid generation of splicing reporters with pSpliceExpress

(2008) Shivendra Kishore et al.   GENE