Guiomar Pérez de Nanclares

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

Recessive mutations in the <i>INS</i> gene result in neonatal diabetes through reduced insulin biosynthesis

Intza Garin, Emma L. Edghill, İldem Akerman et al. · Proceedings of the National Academy of Sciences · 2010 · 209 citations · Full text

Medicine, Endocrinology, Genetics +17

Epigenetic Defects of<i>GNAS</i>in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

Guiomar Pérez de Nanclares, Eduardo Fernández‐Rebollo, Izortze Santín et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 162 citations · Full text

Medicine, Endocrinology, Genetics +15

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

<i>GATA4</i> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Charles Shaw‐Smith, Elisa De Franco, Hana Lango Allen et al. · Diabetes · 2014 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17