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

Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

(2018) Paolo Devanna et al.   HUMAN GENETICS

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

(2018) Nan Yang et al.   HUMAN MOLECULAR 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

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

(2016) Marta Unolt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cdc45 is limiting for replication initiation in humans

(2016) Carsten Köhler et al.   CELL CYCLE

Diagnostic value of exome and whole genome sequencing in craniosynostosis

(2016) Kerry A Miller et al.   JOURNAL OF MEDICAL GENETICS

Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin

(2015) Jeannine Gerhardt et al.   EXPERIMENTAL CELL RESEARCH

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

(2015) M. Dusl et al.   HUMAN MOLECULAR GENETICS

Meier-Gorlin syndrome

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

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Search forReCQL4mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

(2014) J. Piard et al.   CLINICAL GENETICS

Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome

(2013) Kitiwan Rojnueangnit et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNA binding properties of human Cdc45 suggest a function as molecular wedge for DNA unwinding

(2013) Anna Szambowska et al.   NUCLEIC ACIDS RESEARCH

Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion

(2013) Shinji Kunishima et al.   PEDIATRICS INTERNATIONAL

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

(2012) W. Al-Hertani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The CMG (CDC45/RecJ, MCM, GINS) complex is a conserved component of the DNA replication system in all archaea and eukaryotes

(2012) Kira S Makarova et al.   Biology Direct

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

(2012) Donna M McDonald-McGinn et al.   JOURNAL OF MEDICAL GENETICS

A novel tumor-associated antigen, cell division cycle 45-like can induce cytotoxic T-lymphocytes reactive to tumor cells

(2011) Yusuke Tomita et al.   CANCER SCIENCE

The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer

(2011) Rita Colnaghi et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The mutation spectrum in RECQL4 diseases

(2008) H Annika Siitonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS