An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

Sensing DNA Damage Through ATRIP Recognition of RPA-ssDNA Complexes

2003 • 2,569 citations

Hairpin Opening and Overhang Processing by an Artemis/DNA-Dependent Protein Kinase Complex in Nonhomologous End Joining and V(D)J Recombination

2002 • 1,118 citations

Sensing and repairing DNA double-strand breaks

2002 • 1,112 citations

The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

1999 • 1,052 citations

A role for ATR in the DNA damage-induced phosphorylation of p53

1999 • 1,043 citations

Requirement of the MRN complex for ATM activation by DNA damage

2003 • 1,043 citations

ATR and ATRIP: Partners in Checkpoint Signaling

2001 • 935 citations

ATR disruption leads to chromosomal fragmentation and early embryonic lethality

2000 • 922 citations

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

2001 • 893 citations

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

2003 • 767 citations

ATM and ATR: networking cellular responses to DNA damage

2001 • 595 citations

DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

2001 • 529 citations

AID is required to initiate Nbs1/γ-H2AX focus formation and mutations at sites of class switching

2001 • 496 citations

DNA Ligase IV Deficiency in Mice Leads to Defective Neurogenesis and Embryonic Lethality via the p53 Pathway

2000 • 491 citations

The Mre11 complex is required for ATM activation and the G2/M checkpoint

2003 • 489 citations

Autophosphorylation of the DNA-dependent protein kinase catalytic subunit is required for rejoining of DNA double-strand breaks

2002 • 462 citations

Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice

1998 • 431 citations

Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

1999 • 386 citations

5 DNA Breakage and Repair

1998 • 363 citations

An ATR- and Cdc7-Dependent DNA Damage Checkpoint that Inhibits Initiation of DNA Replication

2003 • 345 citations

Leaky Scid Phenotype Associated with Defective V(D)J Coding End Processing in Artemis-Deficient Mice

2002 • 282 citations

Radiation-induced Assembly of Rad51 and Rad52 Recombination Complex Requires ATM and c-Abl

1999 • 272 citations

Nijmegen breakage syndrome

2000 • 265 citations

Crystal Structure of an ATP-Dependent DNA Ligase from Bacteriophage T7

1996 • 260 citations

Molecular Cloning and Expression of Human cDNAs Encoding a Novel DNA Ligase IV and DNA Ligase III, an Enzyme Active in DNA Repair and Recombination

1995 • 254 citations

Crystal structure of an Xrcc4-DNA ligase IV complex.

2001 • 247 citations

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

2003 • 216 citations

A Founder Mutation in Artemis, an SNM1-Like Protein, Causes SCID in Athabascan-Speaking Native Americans

2002 • 169 citations

Splitting the ATM: distinct repair and checkpoint defects in ataxia–telangiectasia

1998 • 160 citations

Crystal Structure of Eukaryotic DNA Ligase–Adenylate Illuminates the Mechanism of Nick Sensing and Strand Joining

2000 • 156 citations

DNA ligase IV-deficient cells are more resistant to ionizing radiation in the absence of Ku70: Implications for DNA double-strand break repair

2001 • 153 citations

A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair Deficiency

1998 • 151 citations

The DNA-Dependent Protein Kinase Interacts with DNA To Form a Protein−DNA Complex That Is Disrupted by Phosphorylation

2002 • 149 citations

DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains

1998 • 143 citations

Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest

2002 • 121 citations

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia

1990 • 108 citations

ATP-dependent DNA ligases.

2002 • 108 citations

Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

2000 • 104 citations

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p

2000 • 98 citations

Ionizing radiation-induced Rad51 nuclear focus formation is cell cycle-regulated and defective in both ATM−/− and c-Abl−/− cells

2003 • 89 citations

Impact of DNA ligase IV on the fidelity of end joining in human cells

2003 • 80 citations

Ku Stimulation of DNA Ligase IV-dependent Ligation Requires Inward Movement along the DNA Molecule

2003 • 78 citations

Clinical and genetic heterogeneity of Seckel syndrome

2002 • 72 citations

Radiosensitivity in Nijmegen Breakage Syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects.

2000 • 71 citations

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

2001 • 60 citations

V(D)J rearrangement in Nijmegen breakage syndrome

2000 • 53 citations

Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families

2003 • 51 citations

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts

1996 • 51 citations

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

2003 • 37 citations

Immune diversity and genomic stability: opposite goals but similar paths

2001 • 16 citations