Lista de obras -

1 in 38 individuals at risk of a dominant medically actionable disease

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

artículo científico publicado en 2011

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

artículo científico publicado en 2017

All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

scientific article published in 2023

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

artículo científico publicado en 2015

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

artículo científico publicado en 2011

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

artículo científico publicado en 2014

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

artículo científico publicado en 2017

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

artículo científico

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

scientific article published in 2022

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

artículo científico publicado en 2012

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

artículo científico publicado en 2018

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

artículo científico publicado en 2011

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

artículo científico publicado en 2008

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

artículo científico publicado en 2011

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

artículo científico publicado en 2007

Guidelines for diagnostic next-generation sequencing

artículo científico publicado en 2015

Guidelines for diagnostic next-generation sequencing

artículo científico publicado en 2016

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

artículo científico publicado en 2018

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

artículo científico publicado en 2018

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

scientific article published on 01 April 2012

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

artículo científico publicado en 2015

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

artículo científico publicado en 2017

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

artículo científico publicado en 2016

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

artículo científico publicado en 2010

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

scientific article published on 25 April 2020

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

artículo científico publicado en 2013

Similar phenotypes caused by mutations in OTOG and OTOGL.

artículo científico publicado en 2014

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

artículo científico publicado en 2019

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

artículo científico publicado en 2015

TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction

artículo científico publicado en 2014

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

artículo científico publicado en 2007

The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

artículo científico publicado en 2016

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

artículo científico publicado en 2019

Why do parents prefer to know the fetal sex as part of invasive prenatal testing?

artículo científico publicado en 2012

Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

artículo científico publicado en 2013

Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.

artículo científico publicado en 2015

Lista de obras de

1 in 38 individuals at risk of a dominant medically actionable disease

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

Guidelines for diagnostic next-generation sequencing

Guidelines for diagnostic next-generation sequencing

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

Similar phenotypes caused by mutations in OTOG and OTOGL.

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.

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

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

Why do parents prefer to know the fetal sex as part of invasive prenatal testing?

Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.