Persones / Equip Humà

Francesc Palau Martínez

Buscador de publicacions

Publicacions

  • 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 cites: 4

    [doi:10.3389/fmolb.2021.635074]

  • 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 cites: 10

    [doi:10.3390/ijms22084274]

  • 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 cites: 10

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • 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 cites: 34

    [doi:10.1093/nar/gkaa794]

  • 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 cites: 10

    [doi:10.1111/cge.13828]

  • 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 cites: 7

    [doi:10.1016/j.jmoldx.2020.10.006]

  • 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 cites: 38

    [doi:10.1093/hmg/ddaa243]

  • 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 cites: 3

    [doi:10.1016/j.anpedi.2020.03.019]

  • 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 cites: 13

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.

    Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

    Epilepsia . 61(5): 971-983. Nº de cites: 14

    [doi:10.1111/epi.16493]