Publications
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Martinez-Molina M, Carmona-Rocha E, Gil-Lianes J, Yubero-Siles D, Casas-Alba D, Baselga E and Ivars M.
Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.
PEDIATRIC DERMATOLOGY . 41(6): 1199-1202.
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Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS . : .
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Beatriz Mínguez Rodríguez, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R.
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia
ANTIOXIDANTS . 13(8): .
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Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.
New variants expand the neurological phenotype of COQ7 deficiency
JOURNAL OF INHERITED METABOLIC DISEASE . : .
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Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.
Multi-omics in MECP2 duplication syndrome patients and carriers.
EUROPEAN JOURNAL OF NEUROSCIENCE . 60(2): 4004-4018. Number of citations: 1
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Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . : .
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Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong-Moron J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M and Vikkula M.
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
ORPHANET JOURNAL OF RARE DISEASES . 19(1): 213-213.
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Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Number of citations: 2
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Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Number of citations: 3
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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 . 143(3): 279-291.