• 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
Mutation
Genes
Exome

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
Exome
Rare Diseases
Virulence
Phenotype
Benchmarking

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

Tubulin
Microcephaly
Mutation
Genes
Exome
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
Transcriptome
Melanoma
Biomarkers
RNA
MicroRNAs
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

Alleles
Exome
Genotype
High-Throughput Nucleotide Sequencing
Rare Diseases