Belén Gil-Fournier

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

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

Ana Arteche‐López, Maria José Gómez-Rodríguez, María Teresa Sánchez‐Calvín et al. · Genes · 2021 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in <i>TRIM63</i> cause an autosomal-recessive form of hypertrophic cardiomyopathy

Joel Salazar‐Mendiguchía, Juan Pablo Ochoa, Julián Palomino-Doza et al. · Heart · 2020 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Elena Martínez‐Cayuelas, Fiona Blanco‐Kelly, Fermina Lopez-Grondona et al. · Journal of Medical Genetics · 2022 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis

Ana Camacho, Beatriz Martínez, Sara Álvarez et al. · Journal of Neuromuscular Diseases · 2020 · 14 citations

Life Sciences, Genetics, Pediatrics +17