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Xavier Estivill

Publications by Year

Research Areas

Cystic Fibrosis Research Advances, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Neonatal Respiratory Health Research, Genomics and Rare Diseases

Most-Cited Works

→ Global variation in copy number in the human genome(2006)4,350 cited
→ International network of cancer genome projects(2010)2,399 cited
→ Transcriptome and genome sequencing uncovers functional variation in humans(2013)2,164 cited
→ Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia(2011)1,519 cited
→ Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa(2019)1,149 cited
→ A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1(2010)1,051 cited
→ Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity(2012)

1,038 cited

→ Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia(2011)992 cited

→ Patterns of somatic structural variation in human cancer genomes(2020)962 cited

→ Non-coding recurrent mutations in chronic lymphocytic leukaemia(2015)842 cited