Publicacions
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Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
PLoS One . 11(5): . Nº de cites: 40
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Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F and Espinós C.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
BRAIN . 139: 62-72. Nº de cites: 64
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Prieto J, León M, Ponsoda X, García-García F, Bort R, Serna E, Barneo-Muñoz M, Palau F, Dopazo J, López-García C and Torres J.
Dysfunctional mitochondrial fission impairs cell reprogramming
Cell Cycle . 15(23): 3240-3250. Nº de cites: 34
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Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de cites: 13
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Calpena, E., Palau F, Espinós, C. and Galindo, M.I..
Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species
PLoS One . 10(7): . Nº de cites: 16
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Hoenicka J, García-Ruiz PJ, Ponce G, Herranz A, Martínez-Rubio D, Pérez-Santamarina E and Palau F.
The addiction-related gene ANKK1 in Parkinsonian patients with impulse control disorder.
NEUROTOX RES . 27(3): 205-208. Nº de cites: 15
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Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
JIMD Reports . 7: 123-128. Nº de cites: 11
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Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
HUMAN GENETICS . : .
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Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
Journal of neuromuscular diseases . : .