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Atherosclerosis|September 16, 2020
Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)Sonia Rodríguez-Nóvoa, Carmen Rodríguez-Jiménez, Concepción Alonso, et al.
Clinical Genetics|January 13, 2019
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformationGema Gordo, Lara Rodriguez-Laguna, Noelia Agra, et al.
Revista Espanola De Cardiologia (English Ed.)|July 26, 2016
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial HypertensionPaula Navas, Jair Tenorio, Carlos Andrés Quezada, et al.
Clinical and Translational Science|December 2, 2017
Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 YearsAlberto M Borobia, Irene Dapia, Hoi Y Tong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 15, 2020
A six-attribute classification of genetic mosaicismVíctor Martínez-Glez, Jair Tenorio, Julián Nevado, et al.
International Journal of Antimicrobial Agents|July 8, 2019
Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish populationIrene Dapía, Irene García, Jose Carlos Martinez, et al.
American Journal of Medical Genetics. Part A|August 3, 2016
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniquesJair Tenorio, Valeria Romanelli, Alex Martin-Trujillo, et al.
The Journal of Experimental Medicine|December 29, 2018
Somatic activating mutations in PIK3CA cause generalized lymphatic anomalyLara Rodriguez-Laguna, Noelia Agra, Kristina Ibañez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 16, 2018
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotypeLara Rodriguez-Laguna, Kristina Ibañez, Gema Gordo, et al.
Scientific Reports|January 16, 2021
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsIrene Perea-Romero, Gema Gordo, Ionut F Iancu, et al.
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