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Publications

  • 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: 8

    [doi:10.1016/j.xhgg.2023.100244]

  • Simao-Rafael M, Cruz-Martínez O, Pérez-Jaume S, Santa-María López V, Lavarino C, Salvador-Hernandez H, Muchart-Lopez J, Hinojosa J, Suñol M and Morales-La Madrid A.

    Use of bevacizumab in pediatric low-grade glioma: Ten-year experience in a single center

    EJC Paediatric Oncology . 2: 100115. Number of citations: 5

    [doi:10.1016/j.ejcped.2023.100115]

  • Carton, C, Evans, DG, Blanco, I, Friedrich, RE, Ferner, RE, Farschtschi, S, Salvador-Hernandez H, Azizi, AA, Mautner, V, Rohl, C, Peltonen, S, Stivaros, S, Legius, E and Oostenbrink, R.

    ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

    EClinicalMedicine . 56: . Number of citations: 78

    [doi:10.1016/j.eclinm.2022.101818]

  • Parada-Avendaño I, Salvador-Hernandez H, García RG, Martorell-Sampol L, García-Fontecha CG, Torner-Rubies F and Pérez-López LM.

    Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons

    Joint Diseases and Related Surgery . 34(1): 3-8. Number of citations: 2

    [doi:10.52312/jdrs.2023.903]

  • Catasús N, Rosas I, Bonache S, Negro A, Torres-Martin M, Plana-Pla A, Salvador-Hernandez H, Serra E, Blanco I and Castellanos E.

    Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

    MOLECULAR THERAPY NUCLEIC ACIDS . 30: 493-505. Number of citations: 5

    [doi:10.1016/j.omtn.2022.10.026]

  • Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador-Hernandez H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A, Mensenkamp AR and Vos JR.

    Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

    European Journal of Medical Genetics . 65(12): 104632-104632. Number of citations: 23

    [doi:10.1016/j.ejmg.2022.104632]

  • Guerrini-Rousseau L, Smith MJ, Kratz CP, Doergeloh B, Hirsch S, Hopman SMJ, Jorgensen M, Kuhlen M, Michaeli O, Milde T, Ridola V, Russo A, Salvador-Hernandez H, Waespe N, Claret B, Brugieres L and Evans DG.

    Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

    Familial Cancer . 20(4): 317-325. Number of citations: 31

    [doi:10.1007/s10689-021-00247-z]

  • Magallón-Lorenz M, Fernández-Rodríguez J, Terribas E, Creus-Batchiller E, Romagosa C, Estival A, Perez Sidelnikova D, Salvador-Hernandez H, Villanueva A, Blanco I, Carrió M, Lázaro C, Serra E and Gel B.

    Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.

    HUMAN GENETICS . 140(8): 1241-1252. Number of citations: 17

    [doi:10.1007/s00439-021-02296-x]

  • Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.

    Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

    CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Number of citations: 2

    [doi:10.1007/s00381-021-05222-8]