Estivill, Xavier

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,496

Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,064

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Initiative, A. N. G., Watson, H. J., Eating Disorders Working Group of the Psychiatric Genomics Consortium, Yilmaz, Z., Thornton, L. M., Hübel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., et al. (2019) · Nature Genetics

Eating Disorders and BehaviorsGenetic Associations and Epidemiology

Cited by 1,109

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Collaborative Association Study of Psoriasis (CASP), Tsoi, L. C., Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., et al. (2012) · Nature Genetics

Psoriasis: Treatment and PathogenesisGenetic Associations and Epidemiology

Cited by 1,024

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes

Stephens, J. C., Reich, D. E., Goldstein, D. B., Shin, H. D., Smith, M. W., Carrington, M., Winkler, C., Huttley, G. A., Allikmets, R., Schriml, L., et al. (1998) · The American Journal of Human Genetics

HIV Research and TreatmentForensic and Genetic Research

Cited by 520

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

Brain-Derived Neurotrophic Factor Val66Met and Psychiatric Disorders: Meta-Analysis of Case-Control Studies Confirm Association to Substance-Related Disorders, Eating Disorders, and Schizophrenia

Gratacòs, M., González, J. R., Mercader, J. M., de Cid, R., Urretavizcaya, M., & Estivill, X. (2007) · Biological Psychiatry

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 428

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC), Horikoshi, M., Early Growth Genetics (EGG) Consortium, Yaghootkar, H., Mook-Kanamori, D. O., Sovio, U., Taal, H. R., Hennig, B. J., Bradfield, J. P., St Pourcain, B., et al. (2013) · Nature Genetics

Birth, Development, and HealthGenetic Associations and Epidemiology

Cited by 309

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

The GEUVADIS Consortium, 't Hoen, P. A. C., Friedländer, M. R., Almlöf, J., Sammeth, M., Pulyakhina, I., Anvar, S. Y., Laros, J. F. J., Buermans, H. P. J., Karlberg, O., et al. (2013) · Nature Biotechnology

Genomics and Phylogenetic StudiesGene expression and cancer classification

Cited by 250

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Mullins, N., Kang, J., Campos, A. I., Coleman, J. R. I., Edwards, A. C., Galfalvy, H., Levey, D. F., Lori, A., Shabalin, A., Starnawska, A., et al. (2022) · Biological Psychiatry

Suicide and Self-Harm StudiesGenetic Associations and Epidemiology

Cited by 238

HumanMinibrainHomologue (MNBH/DYRK1): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome

Guimera, J., Casas, C., Estivill, X., & Pritchard, M. (1999) · Genomics

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 186

Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia

Saus, E., Soria, V., Escaramís, G., Vivarelli, F., Crespo, J. M., Kagerbauer, B., Menchón, J. M., Urretavizcaya, M., Gratacòs, M., & Estivill, X. (2010) · Human Molecular Genetics

Circadian rhythm and melatoninMicroRNA in disease regulation

Cited by 163

Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging

Barrientos, A., Casademont, J., Cardellach, F., Estivill, X., Urbano-Marquez, A., & Nunes, V. (1997) · Molecular Brain Research

Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model Organisms

Cited by 149

Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system

Martı́, E., Altafaj, X., Dierssen, M., de la Luna, S., Fotaki, V., Alvarez, M., Pérez-Riba, M., Ferrer, I., & Estivill, X. (2003) · Brain Research

Neurogenesis and neuroplasticity mechanismsNeuroscience and Neuropharmacology Research

Cited by 136

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

Rodríguez-Santiago, B., Brunet, A., Sobrino, B., Serra-Juhé, C., Flores, R., Armengol, L., Vilella, E., Gabau, E., Guitart, M., Guillamat, R., et al. (2010) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 88

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

Martín-Nalda, A., Fortuny, C., Rey, L., Bunney, T. D., Alsina, L., Esteve-Solé, A., Bull, D., Anton, M. C., Basagaña, M., Casals, F., et al. (2020) · Journal of Clinical Immunology

Immunodeficiency and Autoimmune DisordersInflammasome and immune disorders

Cited by 56

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

Amaral, M. D., Pacheco, P., Beck, S., Farinha, C. M., Penque, D., Nogueira, P., Barreto, C., Lopes, B., Casals, T., Dapena, J., et al. (2001) · Journal of Medical Genetics

Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst Diseases

Cited by 37

Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate

Ponsa, I., Ramos-Quiroga, J. A., Ribasés, M., Bosch, R., Bielsa, A., Ordeig, M. T., Morell, M., Miró, R., de Cid, R., Estivill, X., et al. (2009) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Carcinogens and Genotoxicity AssessmentAttention Deficit Hyperactivity Disorder

Cited by 21