Published in DNA Repair (Amst) on May 26, 2009
The DNA damage response: making it safe to play with knives. Mol Cell (2010) 16.13
Repair of double-strand breaks by end joining. Cold Spring Harb Perspect Biol (2013) 1.58
Tipin-replication protein A interaction mediates Chk1 phosphorylation by ATR in response to genotoxic stress. J Biol Chem (2010) 1.37
Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet (2010) 1.32
Wolf-Hirschhorn syndrome candidate 1 is involved in the cellular response to DNA damage. Proc Natl Acad Sci U S A (2011) 1.18
Dynamics of Rad9 chromatin binding and checkpoint function are mediated by its dimerization and are cell cycle-regulated by CDK1 activity. PLoS Genet (2010) 1.12
Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis (2011) 1.11
Mind the gap: keeping UV lesions in check. DNA Repair (Amst) (2011) 1.05
The hSSB1 orthologue Obfc2b is essential for skeletogenesis but dispensable for the DNA damage response in vivo. EMBO J (2012) 0.92
ATM-dependent phosphorylation of the checkpoint clamp regulates repair pathways and maintains genomic stability. Cell Cycle (2012) 0.91
Put a RING on it: regulation and inhibition of RNF8 and RNF168 RING finger E3 ligases at DNA damage sites. Front Genet (2013) 0.91
DNA breakage and cell cycle checkpoint abrogation induced by a therapeutic thiopurine and UVA radiation. Oncogene (2010) 0.90
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet (2011) 0.89
USP1 deubiquitinase maintains phosphorylated CHK1 by limiting its DDB1-dependent degradation. Hum Mol Genet (2011) 0.89
Functional characterization of a cancer causing mutation in human replication protein A. Mol Cancer Res (2010) 0.88
Identification of dAven, a Drosophila melanogaster ortholog of the cell cycle regulator Aven. Cell Cycle (2011) 0.86
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest. Cell Cycle (2010) 0.86
A role for checkpoint kinase-dependent Rad26 phosphorylation in transcription-coupled DNA repair in Saccharomyces cerevisiae. Mol Cell Biol (2009) 0.85
DNA Damage Response is Prominent in Ovarian High-Grade Serous Carcinomas, Especially Those with Rsf-1 (HBXAP) Overexpression. J Oncol (2011) 0.79
Rad9 interacts with Aft1 to facilitate genome surveillance in fragile genomic sites under non-DNA damage-inducing conditions in S. cerevisiae. Nucleic Acids Res (2014) 0.78
Is activation of the intra-S checkpoint in human fibroblasts an important factor in protection against UV-induced mutagenesis? Cell Cycle (2013) 0.78
Replication stress induced site-specific phosphorylation targets WRN to the ubiquitin-proteasome pathway. Oncotarget (2016) 0.78
A central role of TRAX in the ATM-mediated DNA repair. Oncogene (2015) 0.76
Targeting the centriolar replication factor STIL synergizes with DNA damaging agents for treatment of ovarian cancer. Oncotarget (2017) 0.75
LKB1 is a DNA damage response protein that regulates cellular sensitivity to PARP inhibitors. Oncotarget (2016) 0.75
ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation. Cancer Res (2004) 6.38
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet (2007) 3.08
ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling. EMBO J (2006) 3.05
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nat Cell Biol (2006) 2.20
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet (2004) 1.95
Nbs1 is required for ATR-dependent phosphorylation events. EMBO J (2004) 1.95
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet (2011) 1.76
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer. Semin Cell Dev Biol (2011) 1.17
Congenital microcephaly. Am J Med Genet C Semin Med Genet (2014) 1.11
Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis (2011) 1.11
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet (2012) 1.06
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Hum Mol Genet (2010) 1.00
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. J Clin Invest (2014) 0.98
Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1. Hum Mol Genet (2008) 0.94
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes (2011) 0.94
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet (2013) 0.93
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet (2014) 0.92
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. Hum Mol Genet (2012) 0.91
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair (Amst) (2013) 0.91
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet (2011) 0.89
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet (2013) 0.89
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. Am J Hum Genet (2012) 0.88
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient. Front Endocrinol (Lausanne) (2011) 0.84
CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Mech Ageing Dev (2011) 0.83
LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Dis Model Mech (2014) 0.81
UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB. J Invest Dermatol (2009) 0.80
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. Brain Dev (2011) 0.77
Life can be stressful without ATR. Nat Genet (2009) 0.76
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. Hum Mutat (2014) 0.75
XPC lymphoblastoid cells defective in the hMutSalpha DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers. DNA Repair (Amst) (2004) 0.75