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Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.166-175

2018

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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1151-1157

2015

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG advances, 2021-01, Vol.2 (1), p.100016, Article 100016

2021

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Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

Circulation (New York, N.Y.), 2022-02, Vol.145 (8), p.606-619

2022

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Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer

European journal of human genetics : EJHG, 2021-08, Vol.29 (8), p.1252-1258

2021

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De novo variants in the PABP domain of PABPC1 lead to developmental delay

Genetics in medicine, 2022-08, Vol.24 (8), p.1761-1773

2022

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How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.39-50

2021

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1752-1758

2018

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Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

European journal of public health, 2017-04, Vol.27 (2), p.372-377

2017

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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

European journal of human genetics : EJHG, 2013-09, Vol.21 (9), p.936-942

2013

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Homozygous DMRT2 variant associates with severe rib malformations in a newborn

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1216-1221

2018

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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability

Retina (Philadelphia, Pa.), 2017-01, Vol.37 (1), p.161-172

2017

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Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

Molecular cytogenetics, 2012-01, Vol.5 (1), p.8-8, Article 8

2012

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

Prenatal diagnosis, 2015-10, Vol.35 (10), p.945-949

2015

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Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome

Cardiovascular research, 2010-10, Vol.88 (1), p.130-139

2010

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Targeted carrier screening for four recessive disorders: High detection rate within a founder population

European journal of medical genetics, 2015-03, Vol.58 (3), p.123-128

2015

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With expanded carrier screening, founder populations run the risk of being overlooked

Journal of community genetics, 2017-10, Vol.8 (4), p.327-333

2017

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Testicular cancer in a patient with Primrose syndrome

European journal of medical genetics, 2006-03, Vol.49 (2), p.127-133

2006

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Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives: Table 1

European journal of public health, 2016-08, p.ckw110

2016

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Iris heterochromia: A variable feature in Verloes-Koulischer-oral-acral syndrome

American journal of medical genetics, 2005-01, Vol.132A (3), p.338-339

2005

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P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH

European journal of medical genetics, 2005-10, Vol.48 (4), p.448-449

2005

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Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q : A recognizable syndrome

American journal of medical genetics, 2005, Vol.136A (1), p.76-80

2005

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Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome

American journal of medical genetics. Part A, 2005, Vol.132A (3), p.338-339

2005

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Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer

De novo variants in the PABP domain of PABPC1 lead to developmental delay

How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Homozygous DMRT2 variant associates with severe rib malformations in a newborn

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

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

Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome

Targeted carrier screening for four recessive disorders: High detection rate within a founder population

With expanded carrier screening, founder populations run the risk of being overlooked

Testicular cancer in a patient with Primrose syndrome

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives: Table 1

Iris heterochromia: A variable feature in Verloes-Koulischer-oral-acral syndrome

P2: Finetuning of the genotype-phenotype correlation in Cri du Chat syndrome using array CGH

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q : A recognizable syndrome

Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome

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