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List of works by Luis A Perez-Jurado

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

scientific article published on 25 January 2011

Characterization of large structural genetic mosaicism in human autosome

journal article published in 2015

Detectable clonal mosaicism and its relationship to aging and cancer

journal article published in 2012

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

scientific article published on 31 May 2019

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

journal article published in 2016

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

scientific article published on 14 August 2019

Genome-wide CNV analysis replicates the association between GSTM1 deletion and bladder cancer: a support for using continuous measurement from SNP-array data

scientific article

Heterozygous rare genetic variants in non-syndromic early-onset obesity

scientific article published on 29 March 2019

Missense variant contribution to USP9X-female syndrome

scientific article published on 09 December 2020

Mosaic loss of chromosome Y is associated with common variation near TCL1A

scientific article

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome

scientific article

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

article

Reply to 'Mosaic loss of chromosome Y in leukocytes matters'

scientific article published on 01 January 2019

The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

scientific article published on 12 May 2022

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

scientific article published on 16 September 2021

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