• 40742 Citations
  • 95 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.

  • 38 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
Human Chromosomes Medicine & Life Sciences
Haplotypes Medicine & Life Sciences

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Research Output 1982 2019

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

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

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

4 Citations (Scopus)

The circulating transcriptome as a source of biomarkers for melanoma

Solé, C., Tramonti, D., Schramm, M., Goicoechea, I., Armesto, M., Hernandez, L. I., Manterola, L., Fernandez-Mercado, M., Mujika, K., Tuneu, A., Jaka, A., Tellaetxe, M., Friedländer, M. R., Estivill, X. P., Piazza, P., Ortiz-Romero, P. L., Middleton, M. R. & Lawrie, C. H., 1 Jan 2019, In : Cancers. 11, 1, 70.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Allele balance bias identifies systematic genotyping errors and false disease associations

Muyas, F., Bosio, M., Puig, A., Susak, H., Domènech, L., Escaramis, G., Zapata, L., Demidov, G., Estivill, X. P., Rabionet, R. & Ossowski, S., 1 Jan 2018, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

High-Throughput Nucleotide Sequencing
Rare Diseases