Lista de obras -

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

artículo científico publicado en 2007

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

artículo científico publicado en 2008

A systematic approach to mapping recessive disease genes in individuals from outbred populations

artículo científico publicado en 2009

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

artículo científico publicado en 2016

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

artículo científico publicado en 2009

Application of genomewide SNP arrays for detection of simulated susceptibility loci

artículo científico publicado en 2005

Assessing the enrichment performance in targeted resequencing experiments

artículo científico publicado en 2012

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

artículo científico publicado en 2002

CD74-NRG1 fusions in lung adenocarcinoma

artículo científico publicado en 2014

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

artículo científico publicado en 2011

Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history

artículo científico publicado en 2013

Comprehensive genomic profiles of small cell lung cancer

artículo científico publicado en 2015

Correlation between genetic and geographic structure in Europe

artículo científico publicado en 2008

Demographic history of Oceania inferred from genome-wide data

artículo científico publicado en 2010

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

artículo científico publicado en 2006

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy

artículo científico publicado en 2002

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome

artículo científico publicado en 2005

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

artículo científico publicado en 2008

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

artículo científico publicado en 2010

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

artículo científico publicado en 2012

Genome-wide linkage analysis of malaria infection intensity and mild disease

artículo científico publicado en 2007

Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification

artículo científico publicado en 2005

Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol

artículo científico publicado en 2004

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

artículo científico publicado en 2009

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

artículo científico publicado en 2015

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

artículo científico publicado en 2008

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

artículo científico publicado en 2012

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

artículo científico publicado en 2010

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

artículo científico publicado en 2008

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

artículo científico publicado en 2007

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

artículo científico publicado en 2005

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

artículo científico publicado en 2004

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

artículo científico publicado en 2009

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

artículo científico publicado en 2007

Mutations in different components of FGF signaling in LADD syndrome

artículo científico publicado en 2006

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

article

New universal primers facilitate Pyrosequencing

artículo científico publicado en 2006

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

artículo científico publicado en 2006

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

artículo científico publicado en 2008

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

artículo científico publicado en 2005

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

scientific journal article

Systematic association mapping identifies NELL1 as a novel IBD disease gene

artículo científico publicado en 2007

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

artículo científico publicado en 2007

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

artículo científico publicado en 2008

Lista de obras de

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family

A systematic approach to mapping recessive disease genes in individuals from outbred populations

A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population

Application of genomewide SNP arrays for detection of simulated susceptibility loci

Assessing the enrichment performance in targeted resequencing experiments

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

CD74-NRG1 fusions in lung adenocarcinoma

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history

Comprehensive genomic profiles of small cell lung cancer

Correlation between genetic and geographic structure in Europe

Demographic history of Oceania inferred from genome-wide data

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Genome-wide linkage analysis of malaria infection intensity and mild disease

Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification

Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Mutations in different components of FGF signaling in LADD syndrome

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

New universal primers facilitate Pyrosequencing

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3

Systematic association mapping identifies NELL1 as a novel IBD disease gene

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia