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Global variation in copy number in the human genome
TLDR
A first-generation CNV map of the human genome is constructed through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia, underscoring the importance of CNV in genetic diversity and evolution and the utility of this resource for genetic disease studies. Expand
Transcriptome and genome sequencing uncovers functional variation in humans
TLDR
Se sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project—the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences discover extremely widespread genetic variation affecting the regulation of most genes. Expand
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
TLDR
Functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project are reported, providing convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts. Expand
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
TLDR
The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease. Expand
SNPassoc: an R package to perform whole genome association studies
TLDR
SNPassoc, an R package to carry out most common analyses in whole genome association studies, including descriptive statistics and exploratory analysis of missing values, calculation of Hardy-Weinberg equilibrium, analysis of association based on generalized linear models, and analysis of multiple SNPs. Expand
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
TLDR
This work provides the first comprehensive catalog of somatic mutations in CLL with relevant clinical correlates and defines a large set of new genes that may drive the development of this common form of leukemia. Expand
Connexin-26 mutations in sporadic and inherited sensorineural deafness
TLDR
Mutations in the GJB2 gene are a major cause of inherited and apparently sporadic congenital deafness and 35delG is the most common mutation for sensorineural deafness, which should facilitate diagnosis and counselling for the mostcommon genetic form of deafness. Expand
High carrier frequency of the 35delG deafness mutation in European populations
TLDR
The 35delG carrier frequency of 1 in 51 in the overall European population clearly indicates that this genetic alteration is a major mutation for autosomal recessive deafness in Caucasoids, which should facilitate diagnosis of congenital deafness and allow early treatment of the affected subjects. Expand
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
TLDR
The identification of GJB2 as the DFNB1 gene should provide a better understanding of the biology of normal and abnormal hearing, help form the basis for diagnosis and may facilitate development of strategies for treatment of this common genetic disorder. Expand
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.
TLDR
The data indicate that the A1555G mutation accounts for a large proportion of the Spanish families with late-onset sensorineural deafness, that this mutation has an age-dependent penetrance for deafness (enhanced by treatment with aminoglycosides), and that mtDNA backgrounds probably do not play a major role in disease expression. Expand
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