Lista de obras -

A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling

artículo científico publicado en 2012

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

artículo científico publicado en 2015

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

artículo científico publicado en 2009

A genetic study of Wilson's disease in the United Kingdom

artículo científico publicado en 2013

A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy

scientific journal article

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies

artículo científico publicado en 2011

Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study

artículo científico publicado en 2006

Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder

artículo científico publicado en 2011

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

artículo científico publicado en 2011

Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing

artículo científico publicado en 2011

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin

artículo científico publicado en 2009

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

artículo científico publicado en 2011

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

artículo científico publicado en 2007

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

artículo científico publicado en 2005

Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance

artículo científico publicado en 2006

Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data

artículo científico publicado en 2011

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

artículo científico publicado en 2015

Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study

artículo científico publicado en 2009

Genome-wide and fine-resolution association analysis of malaria in West Africa

artículo científico publicado en 2009

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.

artículo científico publicado en 2013

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype

artículo científico publicado en 2013

Physical and transcript map of the hereditary prostate cancer region at xq27.

artículo científico publicado en 2002

Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).

artículo científico publicado en 2011

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

artículo científico publicado en 2015

Target-enrichment strategies for next-generation sequencing

artículo científico publicado en 2010

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

The GENCODE exome: sequencing the complete human exome

artículo científico publicado en 2011

The association between polymorphisms in RLIP76 and drug response in epilepsy

artículo científico publicado en 2007

Lista de obras de

A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

A genetic study of Wilson's disease in the United Kingdom

A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies

Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study

Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencing

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance

Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study

Genome-wide and fine-resolution association analysis of malaria in West Africa

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype

Physical and transcript map of the hereditary prostate cancer region at xq27.

Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

Target-enrichment strategies for next-generation sequencing

The DNA sequence of the human X chromosome

The GENCODE exome: sequencing the complete human exome

The association between polymorphisms in RLIP76 and drug response in epilepsy