Research

Neurogenetics and Molecular Medicine

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Publications

  • Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny T, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT, Genomics England Research Consortium, Webster AR, Studer M and Yu-Wai-Man P.

    Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

    brain communications . 3(3): . Number of citations: 17

    [doi:10.1093/braincomms/fcab162]

  • 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. Number of citations: 9

    [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. Number of citations: 5

    [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. Number of citations: 17

    [doi:10.1111/cge.13828]

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

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

    SCIENTIFIC REPORTS . 10(1): 21033-21033. Number of citations: 17

    [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. Number of citations: 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. Number of citations: 5

    [doi:10.4103/1673-5374.284988]

  • Vilaseca M, Burgos-Fernandez FJ, Rey-Barroso L, Roldan-Molina M, Gassiot S, Sarrate E, Isola 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. Number of citations: 51

    [doi:10.1093/hmg/ddaa243]

  • Vanegas MI, Marcé-Grau A, Marti-Sanchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC and Pérez-Dueñas B.

    Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

    PARKINSONISM & RELATED DISORDERS . 80: 165-174. Number of citations: 11

    [doi:10.1016/j.parkreldis.2020.09.023]