María Fenollar‐Cortés

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies

Susana Ferreira, Alberto Ortíz, Dominique P. Germain et al. · Molecular Genetics and Metabolism · 2014 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb et al. · Nature Genetics · 2023 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype

Ainara Ruiz de Sabando, Marc Ciosi, Arkaitz Galbete et al. · European Journal of Human Genetics · 2024 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

María José Trujillo-Tiebas, María Fenollar‐Cortés, Isabel Lorda‐Sánchez et al. · Journal of Assisted Reproduction and Genetics · 2009 · 21 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5

Mónica Mártinez‐García, Eva Garcia-Canto, María Fenollar‐Cortés et al. · Journal of Bone and Mineral Metabolism · 2015 · 14 citations

Life Sciences, Genetics, Molecular Genetics +12