• 41576 Citations
  • 96 h-Index
1982 …2019
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Fingerprint Dive into the research topics where Xavier P. Estivill is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 40 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cystic Fibrosis Medicine & Life Sciences
Alleles Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Exons Medicine & Life Sciences
Haplotypes Medicine & Life Sciences
Human Chromosomes Medicine & Life Sciences

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Research Output 1982 2019

1 Citation (Scopus)

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
Juvenile Arthritis
Rheumatoid Factor
1 Citation (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
2 Citations (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
Rare Diseases

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

Pentose Phosphate Pathway
Gestational Diabetes
Fetal Macrosomia

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