Recerca

Neurogenètica i Medicina Molecular

Buscador de publicacions

Publicacions

  • 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: 7

    [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: 28

    [doi:10.1093/nar/gkaa794]

  • 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: 6

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de cites: 2

    [doi:10.1002/ajmg.a.61939]

  • 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]

  • Paules C, Youssef L, Miranda J, Crovetto F, Estanyol JM, Fernandez-Isern G, Fàtima Crispi Brillas and Gratacós E.

    Maternal proteomic profiling reveals alterations in lipid metabolism in late-onset fetal growth restriction

    SCIENTIFIC REPORTS . 10(1): 21033-21033. Nº de cites: 9

    [doi:10.1038/s41598-020-78207-3]

  • Vega-García N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garces C, Alonso J, Barragán E, Fernandez-Isern G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou-Fernández J, Minguela A, Montaño A, Ortega M, Torrebadell-Burriel M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives-Solà S, Dapena JL, Ramírez M and Camós-Guijosa M.

    Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia

    Journal of Personalized Medicine . 10(4): 244. Nº de cites: 1

    [doi:10.3390/jpm10040244]

  • Batlle C and Ventura S.

    Prion-like domain disease-causing mutations and misregulation of alternative splicing relevance in limb-girdle muscular dystrophy (LGMD) 1G

    NEURAL REGENERATION RESEARCH . 15(12): 2239-2240. Nº de cites: 3

    [doi:10.4103/1673-5374.284988]

  • Vilaseca M, Burgos-Fernandez FJ, Rey-Barroso L, Roldan-Molina M, Gassiot S, Sarrate E, Mario I and Ruiz-Llobet A.

    Hyperspectral imaging for skin cancer and blood disorders diagnosis.

    Asian Journal of Physics . 29(10-12): 1-20.

  • 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: 31

    [doi:10.1093/hmg/ddaa243]