User profiles for X. Estivill

Xavier Estivill MD PhD

qGenomics (Quantitative Genomics Laboratories)
Verified email at qgenomics.com
Cited by 81731

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

JS Beckmann, X Estivill, SE Antonarakis - Nature Reviews Genetics, 2007 - nature.com
… Subsequently, the number of X-linked pigment genes was found to vary among
individuals 49,50 . The Rhesus blood group gene RHD is another familiar example of a long-established …

The human early-life exposome (HELIX): project rationale and design

…, A Carracedo, M Casas, X Estivill… - Environmental …, 2014 - ehp.niehs.nih.gov
Background: Developmental periods in early life may be particularly vulnerable to impacts
of environmental exposures. Human research on this topic has generally focused on single …

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

R Rabionet, P Gasparini, X Estivill - Human mutation, 2000 - Wiley Online Library
… Another connexin (Connexin32, encoded by GJB1) is involved in X-linked peripheral
neuropathy and hearing impairment. Mutations in these genes cause autosomal recessive (GJB2 …

Global variation in copy number in the human genome

…, T Zerjal, J Zhang, L Armengol, DF Conrad, X Estivill… - nature, 2006 - nature.com
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

[HTML][HTML] Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

…, PJ Campbell, I Gut, A López-Guillermo, X Estivill… - Nature, 2011 - nature.com
Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western
countries, is a heterogeneous disease with variable clinical presentation and evolution 1 , 2 . …

Transcriptome and genome sequencing uncovers functional variation in humans

…, T Meitinger, P Rosenstiel, R Guigo, IG Gut, X Estivill… - Nature, 2013 - nature.com
… The distribution of non-reference allele ratios (on the y axis) for premature stop variants
sorted on the x axis according to derived allele frequency, split to sites predicted to trigger and …

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

…, M Bayés, S Heath, M Gut, I Gut, X Estivill… - Nature …, 2012 - nature.com
Here we perform whole-exome sequencing of samples from 105 individuals with chronic
lymphocytic leukemia (CLL) 1 , 2 , the most frequent leukemia in adults in Western countries. …

Non-coding recurrent mutations in chronic lymphocytic leukaemia

…, D Colomer, D Costa, J Delgado, A Enjuanes, X Estivill… - Nature, 2015 - nature.com
Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations
determining the clinicobiological behaviour are not fully understood. Here we describe a …

SNPassoc: an R package to perform whole genome association studies

…, X Solé, E Guinó, JM Mercader, X Estivill… - …, 2007 - academic.oup.com
The popularization of large-scale genotyping projects has led to the widespread adoption of
genetic association studies as the tool of choice in the search for single nucleotide …

[HTML][HTML] Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

…, M Claustres, V Nunes, C Férec, X Estivill - … England Journal of …, 1995 - Mass Medical Soc
Background Congenital bilateral absence of the vas deferens (CBAVD) is a form of male
infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) …