World's Best Scientists 2026 revealed!
Xavier Estivill

Xavier Estivill

Award Badge
Genetics
Spain
2026
Award Badge
Genetics and Molecular Biology
Spain
2024

D-Index & Metrics

Genetics

D-Index
133
Citations
86337
World Ranking
233
National Ranking
3

Medicine

D-Index
135
Citations
87880
World Ranking
2027
National Ranking
21

Research.com Recognitions

  • 2026 - Research.com Genetics in Spain Leader Award
  • 2025 - Research.com Genetics in Spain Leader Award
  • 2024 - Research.com Genetics in Spain Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in Spain Leader Award
  • 2023 - Research.com Genetics in Spain Leader Award
  • 2022 - Research.com Genetics and Molecular Biology in Spain Leader Award

Overview

Xavier Estivill is affiliated with qGenomics in Spain and has a significant publication record in the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. Their research spans genetics, molecular biology, cancer research, clinical psychology, and toxicology.

The scientist's work covers several key topics, including genetic associations and epidemiology, genomics and rare diseases, cancer genomics and diagnostics, genomic variations and chromosomal abnormalities, health, environment and cognitive aging, birth and development health, and epigenetics and DNA methylation.

Frequent publication venues for Estivill include:

  • Nature Genetics
  • Nature Communications
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature
  • BMC Medicine

Recent papers authored or co-authored by Estivill include:

  • Patterns of somatic structural variation in human cancer genomes, 2020, Nature
  • Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing, 2020, Nature Genetics
  • Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition, 2020, Nature Genetics
  • Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease, 2020, Nature Genetics
  • Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer, 2020, Nature Genetics

Estivill has worked extensively with several frequent co-authors, including:

  • Kadir C. Akdemir
  • Isidro Cortés-Ciriano
  • Peter J. Park
  • Yilong Li
  • Jan O. Korbel

The scientist's research integrates molecular and genetic approaches to better understand cancer genomics, genomic rearrangements and their effects on chromatin structure, as well as the genetic basis of complex traits such as Parkinson's disease. The combination of work in both fundamental molecular biology and applied clinical contexts highlights the breadth of their scientific inquiry.

Best Publications

  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

    Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó

  • Global variation in copy number in the human genome

    Richard Redon;Shumpei Ishikawa;Karen R. Fitch;Lars Feuk

  • Pan-cancer analysis of whole genomes

    Peter J. Campbell;Gad Getz;Jan O. Korbel;Joshua M. Stuart

  • Transcriptome and genome sequencing uncovers functional variation in humans

    Tuuli Lappalainen;Michael Sammeth;Marc R. Friedländer;Peter A. C. ‘t Hoen

  • International network of cancer genome projects

    Thomas J. Hudson;Thomas J. Hudson;Warwick Anderson;Axel Aretz;Anna D. Barker

  • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

    Xose S. Puente;Magda Pinyol;Víctor Quesada;Laura Conde

  • Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.

    Víctor Quesada;Laura Conde;Neus Villamor;Gonzalo R Ordóñez

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

    Lam C. Tsoi;Sarah L. Spain;Sarah L. Spain;Jo Knight;Eva Ellinghaus;Eva Ellinghaus

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

    Hunna J. Watson;Hunna J. Watson;Hunna J. Watson;Zeynep Yilmaz;Laura M. Thornton;Christopher Hübel;Christopher Hübel

  • A Genome-Wide Association Study Identifies New Psoriasis Susceptibility Loci and an Interaction Between HLA-C and ERAP1

    Amy Strange;Francesca Capon;Chris C A Spencer

  • Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

    Miguel Chillón;Teresa Casals;Bernard Mercier;Lluís Bassas

  • Non-coding recurrent mutations in chronic lymphocytic leukaemia

    Xose S. Puente;Silvia Beà;Rafael Valdés-Mas;Neus Villamor

  • Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

    Leopoldo Zelante;Paolo Gasparini;Xavier Estivill;Salvatore Melchionda

  • Connexin-26 mutations in sporadic and inherited sensorineural deafness

    Xavier Estivill;Paolo Fortina;Saul Surrey;Raquel Rabionet

  • SNPassoc: an R package to perform whole genome association studies

    Juan R. González;Lluís Armengol;Xavier Solé;Elisabet Guinó

  • Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  • Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides

    Xavier Estivill;Nancy Govea;Anna Barceló;Enric Perelló

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

    J. Claiborne Stephens;David E. Reich;David B. Goldstein;Hyoung Doo Shin

  • Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

    Rafael De Cid;Eva Riveira-Munoz;Patrick L.J.M. Zeeuwen;Jason Robarge

  • Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.

    Mònica Gratacòs;Juan R. González;Josep M. Mercader;Rafael de Cid

Frequent Co-Authors

Raquel Rabionet
Raquel Rabionet University of Barcelona
Fernando Fernández-Aranda
Fernando Fernández-Aranda University of Barcelona
Paolo Gasparini
Paolo Gasparini University of Trieste
Virginia Nunes
Virginia Nunes University of Barcelona
Juan R. González
Juan R. González Barcelona Institute for Global Health
Conxi Lázaro
Conxi Lázaro Institut d'Investigació Biomédica de Bellvitge
Hakon Hakonarson
Hakon Hakonarson Children's Hospital of Philadelphia
José M. Menchón
José M. Menchón University of Barcelona
Stephan Ossowski
Stephan Ossowski University of Tübingen

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring genetics can open doors to diverse healthcare careers. If you want to combine your interest in genetics with patient care, consider online pathways such as rn to bsn programs no clinicals. These options are ideal for those seeking flexibility, as they may not require traditional clinical placements.

For those aiming for advanced practice roles, accelerated options such as 12-month online dnp programs can fast-track your journey to a Doctor of Nursing Practice. Students searching for a quicker entry into healthcare may find a good fit with a medical assistant accelerated program, allowing them to start clinical roles swiftly.

Not sure which path is right for you? There are many guiding resources to help you compare the dnp program options, program requirements, and possible career outcomes. These online degrees create new opportunities for professionals with genetic expertise across clinical, research, and education sectors.

Best Scientists Citing Xavier Estivill

Trending Scientists

Recently Published Articles