Luís Nunes

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire et al. · Human Mutation · 2010 · 146 citations · Full text

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

Prognostic genome and transcriptome signatures in colorectal cancers

Luís Nunes, Fuqiang Li, Meizhen Wu et al. · Nature · 2024 · 107 citations · Full text

A genetic mechanism for sexual dichromatism in birds

Małgorzata Anna Gazda, Pedro M. Araújo, Ricardo J. Lopes et al. · Science · 2020 · 97 citations

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Sandy Léger, X. Balguérie, Alice Goldenberg et al. · European Journal of Human Genetics · 2012 · 46 citations · Full text

Chromosome Dynamics, Developmental Biology, Mendelian Disorder +8