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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

American journal of human genetics, 2012-08, Vol.91 (2), p.252-264

2012

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

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1858-1867

2007

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Diagnostic Genome Profiling in Mental Retardation

American journal of human genetics, 2005-10, Vol.77 (4), p.606-616

2005

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The introduction of arrays in prenatal diagnosis: A special challenge

Human mutation, 2012-06, Vol.33 (6), p.923-929

2012

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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Human mutation, 2012-08, Vol.33 (8), p.1251-1260

2012

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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

American journal of human genetics, 2003-12, Vol.73 (6), p.1261-1270

2003

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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

American journal of human genetics, 2011-12, Vol.89 (6), p.813-819

2011

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An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

European journal of medical genetics, 2010-01, Vol.53 (1), p.45-49

2010

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A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)

European journal of medical genetics, 2015-12, Vol.58 (12), p.642-649

2015

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

European journal of medical genetics, 2009-03, Vol.52 (2), p.108-115

2009

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The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

European journal of medical genetics, 2010-01, Vol.53 (1), p.40-44

2010

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The cardiac phenotype in patients with a CHD7 mutation

Circulation. Cardiovascular genetics, 2013-06, Vol.6 (3), p.248

2013

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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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Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

American journal of medical genetics. Part A, 2008-06, Vol.146A (11), p.1430-1438

2008

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

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2053-2059

2008

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CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3003-3009

2014

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

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2221-2229

2010

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Mutation update on the CHD7 gene involved in CHARGE syndrome

Human mutation, 2012-08, Vol.33 (8), p.1149-1160

2012

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Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

European journal of medical genetics, 2008-09, Vol.51 (5), p.417-425

2008

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Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion

European journal of medical genetics, 2010-09, Vol.53 (5), p.344-346

2010

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Emerging microdeletion and microduplication syndromes; the counseling paradigm

European journal of medical genetics, 2009-03, Vol.52 (2), p.75-76

2009

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Human genetics, 2014-08, Vol.133 (8), p.997-1009

2014

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

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

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Diagnostic Genome Profiling in Mental Retardation

The introduction of arrays in prenatal diagnosis: A special challenge

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies

The cardiac phenotype in patients with a CHD7 mutation

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

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

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

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

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

Mutation update on the CHD7 gene involved in CHARGE syndrome

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion

Emerging microdeletion and microduplication syndromes; the counseling paradigm

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

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