Corry M.R. Weemaes

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

Life Sciences, Genetics, Molecular Biology +10

The <i>DNMT3B</i> DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

R. Scott Hansen, Cisca Wijmenga, Ping Luo et al. · Proceedings of the National Academy of Sciences · 1999 · 730 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann et al. · The Journal of Allergy and Clinical Immunology In Practice · 2019 · 621 citations · Full text

Life Sciences, Immunology, Pediatrics +12

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 · 352 citations

Life Sciences, Genetics, Pediatrics +17

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Melanie M. Hagleitner, Arjan C. Lankester, P Maraschio et al. · Journal of Medical Genetics · 2007 · 217 citations

Life Sciences, Genetics, Molecular Genetics +9