Lista de obras -

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

artículo científico publicado en 2021

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

artículo científico publicado en 2015

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

scientific article published on 06 October 2016

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

artículo científico publicado en 2017

Accurate distinction of pathogenic from benign CNVs in mental retardation

artículo científico publicado en 2010

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

artículo científico publicado en 2013

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

artículo científico publicado en 2019

BRCA Testing by Single-Molecule Molecular Inversion Probes

artículo científico publicado en 2016

Characteristics of de novo structural changes in the human genome

artículo científico publicado en 2015

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

artículo científico publicado en 2010

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

artículo científico publicado en 2016

Clinical interpretation of CNVs with cross-species phenotype data

artículo científico publicado en 2014

Clinical significance of de novo and inherited copy-number variation

artículo científico

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis

artículo científico publicado en 2016

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

artículo científico publicado en 2020

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

artículo científico publicado en 2011

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

artículo científico publicado en 2014

Detection of clinically relevant copy number variants with whole-exome sequencing

artículo científico publicado en 2013

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

artículo científico publicado en 2016

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

artículo científico publicado en 2017

Diagnostic interpretation of array data using public databases and internet sources

artículo científico publicado en 2012

Exome sequencing and whole genome sequencing for the detection of copy number variation

artículo científico

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

artículo científico publicado en 2019

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

artículo científico publicado en 2009

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

artículo científico publicado en 2015

Genome sequencing identifies major causes of severe intellectual disability

artículo científico publicado en 2014

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

artículo científico publicado en 2007

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

Homozygosity mapping in outbred families with mental retardation

artículo científico publicado en 2011

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

artículo científico publicado en 2007

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

artículo científico publicado en 2014

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

artículo científico publicado en 2012

Mobster: accurate detection of mobile element insertions in next generation sequencing data

artículo científico publicado en 2014

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

artículo científico publicado en 2009

Mutations in ANTXR1 cause GAPO syndrome.

artículo científico publicado en 2013

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

artículo científico publicado en 2018

Pathogenic or not? Assessing the clinical relevance of copy number variants ⬇️

artículo científico publicado el 21 de agosto de 2013

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

artículo científico publicado en 2014

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

artículo científico publicado en 2013

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Reduced purifying selection prevails over positive selection in human copy number variant evolution

artículo científico publicado en 2008

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

Reply to Sajantila and Budowle

artículo científico publicado en 2015

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

artículo científico publicado en 2012

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control ⬇️

artículo científico publicado el 16 de septiembre de 2011

The Genome of the Netherlands: design, and project goals

artículo científico publicado en 2014

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

artículo científico publicado en 2015

The clustering of functionally related genes contributes to CNV-mediated disease

artículo científico publicado en 2015

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

artículo científico publicado en 2016

Towards a European consensus for reporting incidental findings during clinical NGS testing

artículo científico publicado en 2015

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

artículo científico publicado en 2017

Lista de obras de

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

Accurate distinction of pathogenic from benign CNVs in mental retardation

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

BRCA Testing by Single-Molecule Molecular Inversion Probes

Characteristics of de novo structural changes in the human genome

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

Clinical interpretation of CNVs with cross-species phenotype data

Clinical significance of de novo and inherited copy-number variation

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

Detection of clinically relevant copy number variants with whole-exome sequencing

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Diagnostic interpretation of array data using public databases and internet sources

Exome sequencing and whole genome sequencing for the detection of copy number variation

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

Genome sequencing identifies major causes of severe intellectual disability

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

Homozygosity mapping in outbred families with mental retardation

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

Mutations in ANTXR1 cause GAPO syndrome.

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Pathogenic or not? Assessing the clinical relevance of copy number variants ⬇️

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Reduced purifying selection prevails over positive selection in human copy number variant evolution

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Reply to Sajantila and Budowle

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control ⬇️

The Genome of the Netherlands: design, and project goals

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The clustering of functionally related genes contributes to CNV-mediated disease

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Towards a European consensus for reporting incidental findings during clinical NGS testing

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia