Publications en collaboration avec des chercheurs de Radboud University Nijmegen Medical Centre (10)

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

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

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

2019

  1. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

    Genetics in Medicine

  2. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Genetics in Medicine, Vol. 21, Núm. 6, pp. 1295-1307

2018

  1. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082

  2. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Clinical Genetics, Vol. 89, Núm. 6, pp. 733-738

2009

  1. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from treacher collins syndrome

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 5, pp. 837-843

  2. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Nature Genetics, Vol. 41, Núm. 7, pp. 829-832