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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Nature genetics, 2012-03, Vol.44 (3), p.277-284

2012

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Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

BMC musculoskeletal disorders, 2013-11, Vol.14 (1), p.323-323, Article 323

2013

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Central 22q11.2 deletions

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2707-2723

2014

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Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Journal of dermatological science, 2009-10, Vol.56 (1), p.9-18

2009

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Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

European journal of human genetics : EJHG, 2008-06, Vol.16 (6), p.673-679

2008

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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Journal of investigative dermatology, 2004-10, Vol.123 (4), p.656-663

2004

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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Human mutation, 2010-06, Vol.31 (6), p.656-666

2010

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The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Human mutation, 2011-10, Vol.32 (10), p.1100-1107

2011

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Mutations in MED12 Cause X-Linked Ohdo Syndrome

American journal of human genetics, 2013-03, Vol.92 (3), p.401-406

2013

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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

BMC medical genomics, 2016-02, Vol.9 (7), p.7-7, Article 7

2016

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Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly

American journal of medical genetics. Part A, 2009-04, Vol.149A (4), p.812-815

2009

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Delayed Onset of Ambulation in Boys with Duchenne Muscular Dystrophy: Potential Use as an Endpoint in Clinical Trials

Neuromuscular disorders : NMD, 2017-10, Vol.27 (10), p.905-910

2017

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Epilepsy in KCNH1‐related syndromes

Epileptic disorders, 2016-06, Vol.18 (2), p.123-136

2016

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Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.161-165

2012

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Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study

European journal of epidemiology, 2013-11, Vol.28 (11), p.875-887

2013

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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Cell, 1999-10, Vol.99 (2), p.143-153

1999

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Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Genome medicine, 2016-12, Vol.8 (1), p.131, Article 131

2016

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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

Human mutation, 2004-01, Vol.23 (1), p.57-66

2004

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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

Journal of medical genetics, 2011-03, Vol.48 (3), p.160-167

2011

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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2739-2745

2011

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Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.158-169

2010

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Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2666-2669

2010

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Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.170-175

2010

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High Rate of Mosaicism in Tuberous Sclerosis Complex

American journal of human genetics, 1999-06, Vol.64 (6), p.1632-1637

1999

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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

Central 22q11.2 deletions

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Lamin A/C -Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly

Delayed Onset of Ambulation in Boys with Duchenne Muscular Dystrophy: Potential Use as an Endpoint in Clinical Trials

Epilepsy in KCNH1‐related syndromes

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

High Rate of Mosaicism in Tuberous Sclerosis Complex

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