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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Clinical genetics, 2012-09, Vol.82 (3), p.248-255

2012

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Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

Ultrasound in obstetrics & gynecology, 2007-07, Vol.30 (1), p.11-18

2007

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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

Journal of medical genetics, 2006-02, Vol.43 (2), p.180-186

2006

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Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands

Clinical genetics, 2013-02, Vol.83 (2), p.118-124

2013

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Journal of medical genetics, 2008-11, Vol.45 (11), p.738-744

2008

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The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008)

Clinical genetics, 2014-01, Vol.85 (1), p.87-95

2014

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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

Clinical genetics, 2014-01, Vol.85 (1), p.78-86

2014

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X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Clinical genetics, 2011-01, Vol.79 (1), p.71-78

2011

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Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

Journal of medical genetics, 2002-08, Vol.39 (8), p.546-553

2002

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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Journal of medical genetics, 2011-06, Vol.48 (6), p.375-382

2011

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Increased nuchal translucency and split‐hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

Prenatal diagnosis, 2005-01, Vol.25 (1), p.39-44

2005

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Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

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Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletion

Prenatal diagnosis, 2003-03, Vol.23 (3), p.215-220

2003

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Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

Journal of medical genetics, 1999-08, Vol.36 (8), p.604-609

1999

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Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents

Ultrasound in obstetrics & gynecology, 2005-12, Vol.26 (7), p.793-794

2005

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Misleading linkage results in an NF2 presymptomatic test owing to mosaicism

Journal of medical genetics, 1997-11, Vol.34 (11), p.934-936

1997

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Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas

Genes chromosomes & cancer, 1995-07, Vol.13 (3), p.211-216

1995

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Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases

Prenatal diagnosis, 2004-12, Vol.24 (12), p.1020-1021

2004

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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

American journal of human genetics, 2019-06, Vol.104 (6), p.1116-1126

2019

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A G→A Transition Creates a Branch Point Sequence and Activation of a Cryptic Exon, Resulting in the Hereditary Disorder Neurofibromatosis 2

Human molecular genetics, 1998-03, Vol.7 (3), p.393-398

1998

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

American journal of human genetics, 2007-05, Vol.80 (5), p.994-1001

2007

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Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis

British journal of cancer, 1994-10, Vol.70 (4), p.684-689

1994

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Molecular analysis of genetic changes in ependymomas

Genes chromosomes & cancer, 1995-08, Vol.13 (4), p.272-277

1995

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Neurofibromatosis type 2 in an adolescent boy with polyneuropathy and a mutation in the NF2 gene

Journal of neurology, 1996-10, Vol.243 (10), p.724-726

1996

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Increased nuchal translucency thickness and normal karyotype: time for parental reassurance

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008)

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Increased nuchal translucency and split‐hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletion

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype

Increased nuchal translucency thickness: a marker for chromosomal and genetic disorders in both offspring and parents

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas

Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two cases

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

A G→A Transition Creates a Branch Point Sequence and Activation of a Cryptic Exon, Resulting in the Hereditary Disorder Neurofibromatosis 2

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis

Molecular analysis of genetic changes in ependymomas

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Neurofibromatosis type 2 in an adolescent boy with polyneuropathy and a mutation in the NF2 gene

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