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Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

The American heart journal, 2013-09, Vol.166 (3), p.496-502

2013

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FOXP1 -related intellectual disability syndrome: a recognisable entity

Journal of medical genetics, 2017-09, Vol.54 (9), p.613-623

2017

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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.102-107

2011

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Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

Investigative ophthalmology & visual science, 2014-09, Vol.55 (10), p.6817-6828

2014

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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.52-52, Article 52

2015

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What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

European journal of pediatrics, 2007-07, Vol.166 (7), p.637-643

2007

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Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

Prenatal diagnosis, 2018-03, Vol.38 (4), p.258-266

2018

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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Human mutation, 2019-08, Vol.40 (8), p.1145-1155, Article humu.23768

2019

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Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

Human mutation, 2019-10, Vol.40 (10), p.1760-1767

2019

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Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Genetics in medicine, 2019-12, Vol.21 (12), p.2774-2780

2019

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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Scientific reports, 2020-01, Vol.10 (1), p.1289-1289, Article 1289

2020

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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

PloS one, 2017-01, Vol.12 (1), p.e0170038-e0170038

2017

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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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Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American journal of human genetics, 2012-02, Vol.90 (2), p.321-330

2012

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Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

American journal of human genetics, 2010-03, Vol.86 (3), p.434-439

2010

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Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

Heart rhythm, 2004-11, Vol.1 (5), p.610-615

2004

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Post-zygotic origin of isochromosome 12p

Prenatal diagnosis, 2004-12, Vol.24 (12), p.984-988

2004

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Subtelomeric imbalances in phenotypically normal individuals

Human mutation, 2007-10, Vol.28 (10), p.958-967

2007

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Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

Investigative ophthalmology & visual science, 2006-03, Vol.47 (3), p.1167-1176

2006

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Regulatory landscape of providing information on newborn screening to parents across Europe

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.67-78

2021

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Follow-up of adult males with chromosome 18p deletion

European journal of medical genetics, 2005-04, Vol.48 (2), p.189-193

2005

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A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

European journal of human genetics : EJHG, 2005-04, Vol.13 (4), p.503-505

2005

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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy: Patient outcomes, rate of appropriate and inappropriate interventions, and complications

FOXP1 -related intellectual disability syndrome: a recognisable entity

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

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

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

Post-zygotic origin of isochromosome 12p

Subtelomeric imbalances in phenotypically normal individuals

Microarray-Based Mutation Detection and Phenotypic Characterization of Patients with Leber Congenital Amaurosis

Regulatory landscape of providing information on newborn screening to parents across Europe

Follow-up of adult males with chromosome 18p deletion

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

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