WES

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol

Journal of Medical Genetics Feb 2020, 57 (2) 132-137; DOI: 10.1136/jmedgenet-2019-106373
A novel mutation in the GFAP gene expands the phenotype of Alexander disease
Carlos Casasnovas, Edgard Verdura, Valentina Vélez, Agatha Schlüter, Albert Pons-Escoda, Christian Homedes, Montserrat Ruiz, Stéphane Fourcade, Nathalie Launay, Aurora Pujol

Journal of Medical Genetics Dec 2019, 56 (12) 846-849; DOI: 10.1136/jmedgenet-2018-105959
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
Mirta Basha, Bénédicte Demeer, Nicole Revencu, Raphael Helaers, Stephanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève Francois, Bénédicte Bayet, Miikka Vikkula

Journal of Medical Genetics Jul 2018, 55 (7) 449-458; DOI: 10.1136/jmedgenet-2017-105110

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