Concepedia

Author

Xavier Estivill

Centre for Genomic RegulationORCID

Also Known As

Andrew J. Dunford, Anjali K. Henders, C Pérez, C Roifman, Chou, Yi-Ling, Chris Finan, David D L Botwell, ESTIVILL, X, Estivill X., Estivill Xavier

875

Publications

83K

Citations

126

H-Index

345

Concepts

All Affiliations

Centre for Genomic RegulationUniversitat Pompeu FabraCentro de Investigación Biomédica en Red de Epidemiología y Salud PúblicaDuran i Reynals HospitalUniversitat de Barcelona
XE

About

Xavier Estivill is an author at Centre for Genomic Regulation specializing in medicine, genetics, and molecular genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

81

266

30K

2

Arts

11

11

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3

Engineering

8

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Health Sciences

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Education

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Xavier Estivill

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472

Publications

52K

Citations

104

H-Index

YearCitations

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch,

Nature

2006

4.3K

Pan-cancer analysis of whole genomes

Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse,

Nature

2020

3.1K

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer,

Nature

2013

2.1K

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Xosé S. Puente, Magda Pinyol, Vı́ctor Quesada,

Nature

2011

1.5K

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

Vı́ctor Quesada, Laura Peña Conde, Neus Villamor,

Nature Genetics

2011

988

Non-coding recurrent mutations in chronic lymphocytic leukaemia

Xosé S. Puente, Rafael Valdés‐Mas, Neus Villamor,

Nature

2015

842

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

Heather C. Mefford, Andrew J. Sharp, Carl Baker,

New England Journal of Medicine

2008

803

SNPassoc: an R package to perform whole genome association studies

Juan R. González, Lluı́s Armengol, Xavier Solé,

Bioinformatics

2007

785

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey,

The Lancet

1998

642

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,

The American Journal of Human Genetics

1998

547

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