Núria Rivera‐Bruguès

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès et al. · Human Mutation · 2010 · 138 citations · Full text

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

Ivon Cuscó, Roser Corominas, Mónica Bayés et al. · Genome Research · 2008 · 69 citations · Full text

Cohen syndrome diagnosis using whole genome arrays

Núria Rivera‐Bruguès, Beate Albrecht, Dagmar Wieczorek et al. · Journal of Medical Genetics · 2010 · 33 citations · Full text

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

Konrad Oexle, Maja Hempel, Anna Jauch et al. · European Journal of Medical Genetics · 2011 · 18 citations

Developmental Biology, Genetic Disorder, Genetics +7

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

Birgit Zirn, Maja Hempel, Andreas Hahn et al. · American Journal of Medical Genetics Part A · 2008 · 11 citations

Developmental Anomaly, Genetic Disorder, Pathology +7