Experimental Genetics

Fingerprint Dive into the research topics where Experimental Genetics is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Hearing Loss Medicine & Life Sciences
Exome Medicine & Life Sciences
Cardiac Myosins Medicine & Life Sciences
Alleles Medicine & Life Sciences
MicroRNAs Medicine & Life Sciences
Genome Medicine & Life Sciences

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Research Output 2002 2019

  • 1081 Citations
  • 18 h-Index
  • 59 Article
  • 2 Chapter
  • 2 Review article
  • 1 Comment/debate

A transcriptomic atlas of mammalian olfactory mucosae reveals an evolutionary influence on food odor detection in humans

Rodrigues Saraiva, L. M., Riveros-McKay, F., Mezzavilla, M., Abou-Moussa, E. H., Arayata, C. J., Makhlouf, M., Trimmer, C., Ibarra-Soria, X., Khan, M., Van Gerven, L., Jorissen, M., Gibbs, M., O’Flynn, C., McGrane, S., Mombaerts, P., Marioni, J. C., Mainland, J. D. & Logan, D. W., 31 Jul 2019, In : Science Advances. 5, 7, eaax0396.

Research output: Contribution to journalArticle

Open Access
odors
neurons
food
mice
mammals

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