Publicaciones
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de Andrés-Nogales F, Cruz E, Calleja MÁ, Delgado O, Gorgas MQ, Espín J, Mestre-Ferrándiz J, Palau F, Ancochea A, Arce R, Domínguez-Hernández R, Casado MÁ and FinMHU-MCDA Group.
A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study).
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 186-186. Nº de citas: 11
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Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de citas: 10
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Díaz-Santiago E, Claros MG, Yahyaoui R, de Diego-Otero Y, Calvo R, Hoenicka J, Palau F, Ranea JAG and Perkins JR.
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks
Frontiers in Molecular Biosciences . 8: 635074-635074. Nº de citas: 4
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Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
PEDIATRIC NEUROLOGY . 115: 50-65. Nº de citas: 12
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Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño FM, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda JL, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo MÁ, Morin M, Gallego-Martinez A, Lopez-Escamez JA, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium, Carracedo Á, Alonso Á and Dopazo J.
CSVS, a crowdsourcing database of the Spanish population genetic variability
NUCLEIC ACIDS RESEARCH . 49(D1): 1130-1137. Nº de citas: 36
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Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.
Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases
JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de citas: 8
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Esquerda-Areste M, Palau F, Lorenzo D, Cambra-Lasaosa FJ, Bofarull M, Cusi V and Grup Interdisciplinar En Bioetica G.
Ethical questions concerning newborn genetic screening
CLINICAL GENETICS . 99(1): 93-98. Nº de citas: 11
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Cantarero-Abad L, Juárez-Escoto E, Civera-Tregon A, Rodriguez-Sanz, Maria, Roldan-Molina M, Benítez R, Hoenicka J and Palau F.
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease
HUMAN MOLECULAR GENETICS . 29(22): 3589-3605. Nº de citas: 41
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Dal-Ré R, Palau F, Guillén-Navarro E and Ayuso C.
Participant-funded clinical trials on rare diseases
ANALES DE PEDIATRIA . 93(4): . Nº de citas: 3
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de citas: 15