Research

Translational Genomics

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Publications

  • Sánchez-Espino LF, Ivars M, Prat-Torres CS, Lavarino C, Gene-Olaciregui N, Rovira-Zurriaga C, Celis-Passini V, Miguel Bejarano Serrano and Baselga E.

    Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome

    PEDIATRIC DERMATOLOGY . 41(5): 861-865.

    [doi:10.1111/pde.15598]

  • Camiña-Conforto G, Ivars M, Sarquella-Brugada G, Carlos Valera Dávila, Salvador-Hernandez H, Rovira-Zurriaga C and Baselga E.

    Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy

    PEDIATRIC DERMATOLOGY . 41(5): 904-907.

    [doi:10.1111/pde.15632]

  • Azizi, AA, Hargrave, D, Passos, J, Wolkenstein, P, Rosenbaum, T, Santoro, C, Rosenmayr, V, Pletschko, T, Ascierto, PA and Salvador-Hernandez H.

    Consensus recommendations on management of selumetinib-associated adverse events in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas

    Neuro-Oncology Practice . 11(5): 515-531. Number of citations: 3

    [doi:10.1093/nop/npae038]

  • Sanchez-Guixe E, Muiños F, Pinheiro-Santin M, González-Huici V, Rodriguez-Hernandez CJ, Avgustinova A, Lavarino C, González- Pérez A, Mora J and López-Bigas N.

    Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues

    CANCER DISCOVERY . 14(6): 953-964. Number of citations: 5

    [doi:10.1158/2159-8290.CD-23-1186]

  • De Bortoli M, Ivars M, Revencu N, Nassogne MC, Lavarino C, Paco-Mercader S, Lammens M, Renders A, Dumitriu D, Helaers R, Boon LM, Baselga E and Vikkula M.

    Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 194(6): . Number of citations: 3

    [doi:10.1002/ajmg.a.63551]

  • Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong-Moron J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M and Vikkula M.

    Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 213-213. Number of citations: 5

    [doi:10.1186/s13023-024-03196-9]

  • Gorostegui M, Muñoz JP, Pérez-Jaume S, Simao-Rafael M, Cristina Larrosa Espinosa, Garraus-Oneca M, Salvador-Marcos N, Lavarino C, Krauel L, Mañe S, Castañeda-Heredia A and Mora J.

    Management of High-Risk Neuroblastoma with Soft-Tissue-Only Disease in the Era of Anti-GD2 Immunotherapy

    Cancers . 16(9): . Number of citations: 1

    [doi:10.3390/cancers16091735]

  • Fresno Cañada C, Gispets Parcerisas J, Del Prado-Sanchez C, Puigventós E, Pérez-Jaume S, Salvador-Hernandez H, Llorca Cardeñosa A and Prat-Bartomeu J.

    DRI Triton SS-OCT applied to detect choroidal nodules in paediatric patients affected by NF1

    Heliyon . 10(8): . Number of citations: 1

    [doi:10.1016/j.heliyon.2024.e29263]

  • Pinto EM, Fridman C, Figueiredo BC, Salvador-Hernandez H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC and Zambetti GP.

    Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility

    Human Genetics and Genomics Advances . 5(1): 100244-100244. Number of citations: 5

    [doi:10.1016/j.xhgg.2023.100244]

  • Viskochil, D, Wysocki, M, Learoyd, M, Sun, P, So, KR, Evans, A, Lai, FC and Salvador-Hernandez H.

    Effect of food on selumetinib pharmacokinetics and gastrointestinal tolerability in adolescents with neurofibromatosis type 1-related plexiform neurofibromas

    neuro-oncology advances . 6(1): . Number of citations: 3

    [doi:10.1093/noajnl/vdae036]