Persones / Equip Humà

Janet Hoenicka

Buscador de publicacions

Publicacions

  • Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW and United Kingdom Brain Expression Consortium (UKBEC) and the International Parkins.

    Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

    JAMA NEUROLOGY . 78(4): 464-472. Nº de cites: 95

    [doi:10.1001/jamaneurol.2020.5257]

  • 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]

  • 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: 8

    [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: 41

    [doi:10.1093/hmg/ddaa243]

  • Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F, Nalls MA, Singleton AB and International Parkinson's Disease Genomics Consortium (IPDGC).

    Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.

    MOVEMENT DISORDERS . 35(5): 774-780. Nº de cites: 42

    [doi:10.1002/mds.27974]

  • Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z and International Parkinson's Disease Genomic Consortium (IPDGC).

    Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease.

    JOURNAL OF MEDICAL GENETICS . 57(5): 331-338. Nº de cites: 33

    [doi:10.1136/jmedgenet-2019-106283]

  • Koeneke A, Ponce G, Troya-Balseca J, Palomo T and Hoenicka J.

    Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(7): . Nº de cites: 15

    [doi:10.3390/ijms21072516]

  • Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA, Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M, International Parkinson’s Disease Genomics Consortium (IPDGC) and UK Brain Expression Consortium (UKBEC).

    Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.

    NATURE COMMUNICATIONS . 11(1): 1041-1041. Nº de cites: 13

    [doi:10.1038/s41467-020-14483-x]

  • Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB, 23andMe Research Team, System Genomics of Parkinson's Disease Consortium and International Parkinson's Disease Genomics Consortium.

    Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.

    LANCET NEUROLOGY . 18(12): 1091-1102. Nº de cites: 1202

    [doi:10.1016/S1474-4422(19)30320-5]

  • Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL, American Genome Center, Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-Escrig A, Duarte J, Vives F, Duran R, Hoenicka J, Alvarez V, Infante J, Marti MJ, Clarimón J, López de Munain A, Pastor P, Mir P, Singleton A and International Parkinson Disease Genomics Consortium.

    The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

    MOVEMENT DISORDERS . 34(12): 1851-1863. Nº de cites: 39

    [doi:10.1002/mds.27864]