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Ebiomedicine|April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failureManuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.International Journal of Molecular Sciences|October 14, 2022
Mutations, Genes, and Phenotypes Related to Movement Disorders and AtaxiasDolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, et al.Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2017
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot studyAlejandra Darling, Cristina Tello, María Josep Martí, et al.Brain : a Journal of Neurology|February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized studyNatalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.Elife|October 3, 2024
Novel risk loci for COVID-19 hospitalization among admixed American populationsSilvia Diz-de Almeida, Raquel Cruz, Andre D Luchessi, et al.Human Molecular Genetics|June 16, 2022
Novel genes and sex differences in COVID-19 severityRaquel Cruz, Silvia Diz-de Almeida, Miguel López de Heredia, et al.Pageof 4