I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer

Rapid silver staining and recovery of PCR products separated on polyacrylamide gels.

Sanguinetti Cj, Emmanuel Dias‐Neto, Simpson Aj · PubMed · 1994 · 1.2K citations

Engineering, Complex Mixtures, Dna Analysis +18

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer et al. · Cell · 1998 · 1.1K citations · Full text

Is Mutated, Chromatin, Genome Instability +10

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

Val C. Sheffield, John S. Beck, Anne E. Kwitek et al. · Genomics · 1993 · 675 citations

Sequence Motif, Structural Bioinformatics, Single Base Substitutions +10

Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres

Xu‐Dong Zhu, Bernhard Küster, Matthias Mann et al. · Nature Genetics · 2000 · 595 citations

Genome Instability, Cell Regulation, Cell Division +4

A NEW CHROMOSOMAL INSTABILITY DISORDER: THE NIJMEGEN BREAKAGE SYNDROME

Corry M.R. Weemaes, T. W. J. Hustinx, J. M. J. C. Scheres et al. · Acta Paediatrica · 1981 · 350 citations