• 41774 Citations
  • 96 h-Index
1982 …2019

Research output per year

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Research Output

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

Rabionet, R., Remesal, A., Mensa-Vilaró, A., Murías, S., Alcobendas, R., González-Roca, E., Ruiz-Ortiz, E., Antón, J., Iglesias, E., Modesto, C., Comas, D., Puig, A., Drechsel, O., Ossowski, S., Yagüe, J., Merino, R., Estivill, X. P. & Arostegui, J. I., 1 Dec 2019, In : Scientific reports. 9, 1, 4579.

Research output: Contribution to journalArticle

Open Access
  • 2 Citations (Scopus)

    Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome

    Bustamante, M., Hernandez-Ferrer, C., Tewari, A., Sarria, Y., Harrison, G. I., Puigdecanet, E., Nonell, L., Kang, W., Friedländer, M. R., Estivill, X., González, J. R., Nieuwenhuijsen, M. & Young, A. R., 1 Jan 2019, (Accepted/In press) In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Citation (Scopus)

    eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

    Bosio, M., Drechsel, O., Rahman, R., Muyas, F., Rabionet, R., Bezdan, D., Domenech Salgado, L., Hor, H., Schott, J. J., Munell, F., Colobran, R., Macaya, A., Estivill, X. P. & Ossowski, S., 1 Jul 2019, In : Human mutation. 40, 7, p. 865-878 14 p.

    Research output: Contribution to journalArticle

    Open Access
  • 2 Citations (Scopus)

    Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus

    Steyn, A., Crowther, N. J., Norris, S. A., Rabionet, R., Estivill, X. & Ramsay, M., 1 Jan 2019, In : Epigenomics. 11, 12, p. 1371-1385 15 p.

    Research output: Contribution to journalArticle

  • Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

    Madrigal, I., Rabionet, R., Alvarez-Mora, M. I., Sanchez, A., Rodríguez-Revenga, L., Estivill, X. P. & Mila, M., 5 May 2019, In : Gene. 695, p. 12-17 6 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)