Xavier Estivill

Medicine · Health Sciences

126h-index83.0kcitations875works8.92yr avg
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Research Topics

Cystic Fibrosis Research Advances(123), Genomic variations and chromosomal abnormalities(72), Genetics and Neurodevelopmental Disorders(60), Neonatal Respiratory Health Research(53), Genomics and Rare Diseases(48)

Publications808 total

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Archive ouverte UNIGE (University of Geneva)·2026Open Access
Leveraging transdiagnostic genetic liability to psychiatric disorders to dissect clinical outcomes of anorexia nervosa
Molecular Psychiatry·2025Open Access
Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants
Cardiovascular Research·2025· 2 cited
Meet-in-the-middle meets multi-omics identifying molecular signatures of environmental drivers of childhood overweight
Environment International·2025· 2 citedOpen Access
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Nature Genetics·2025· 28 citedOpen Access
Meet-in-the-Middle Meets Multi-Omics Identifying Molecular Signatures of Environmental Drivers of Childhood Overweight
SSRN Electronic Journal·2025Open Access
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology
2024Open Access
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants
European Journal of Human Genetics·2024· 19 citedOpen Access
Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis
Schizophrenia Bulletin·2024· 10 citedOpen Access
ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis
Proceedings of the National Academy of Sciences·2024· 9 citedOpen Access
Burden of Mendelian disorders in a large Middle Eastern biobank
Genome Medicine·2024· 14 citedOpen Access
Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder
2024· 21 citedOpen Access
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Nature Genetics·2024· 13 citedOpen Access
Author Correction: Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Nature Genetics·2023· 3 citedOpen Access
Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
Nature Genetics·2023· 4 citedOpen Access
Author Correction: Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Nature Genetics·2023· 1 citedOpen Access
Author Correction: Patterns of somatic structural variation in human cancer genomes
Nature·2023· 4 citedOpen Access
Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations
Nature Communications·2022Open Access
Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer
Nature Communications·2022Open Access
Multi-omics signatures of the human early life exposome
Nature Communications·2022· 174 citedOpen Access
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Frequent Co-authors

Marta Gut(11), David Torrents(8), Kadir C. Akdemir(8), Paolo Gasparini(8), Yilong Li(7), Stylianos E. Antonarakis(6), Jan O. Korbel(6), Peter J. Park(6), Raquel Rabionet(6), Juan R. González(5), Hidewaki Nakagawa(5), David D.L. Bowtell(5), Paul C. Boutros(5), José M. C. Tubío(5), Giuseppe Novelli(5), Nicola D. Roberts(5), Jeremiah A. Wala(5), Steven E. Schumacher(5), James E. Haber(5), Marcin Imieliński(5)