André Reis

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

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Robyn H. Wallace, Dao Wen Wang, Rita Singh et al. · Nature Genetics · 1998 · 1K citations

Life Sciences, Genetics, Neuroscience +14

Genome-wide, large-scale production of mutant mice by ENU mutagenesis

Martin Hrabě de Angelis, Heinrich Flaswinkel, Helmut Fuchs et al. · Nature Genetics · 2000 · 675 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Psoriasis is associated with increased β-defensin genomic copy number

Edward J. Hollox, Ulrike Hüffmeier, Patrick L.J.M. Zeeuwen et al. · Nature Genetics · 2007 · 621 citations · Full text

Medicine, Genetics, Molecular Genetics +12