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Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

American journal of neuroradiology : AJNR, 2013-06, Vol.34 (6), p.1257-1263

2013

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Human molecular genetics, 2013-02, Vol.22 (4), p.696-703

2013

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Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

BioMed research international, 2015-01, Vol.2015 (2015), p.1-8

2015

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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The annual incidence of DiGeorge/velocardiofacial syndrome

Journal of medical genetics, 1998-09, Vol.35 (9), p.789-790

1998

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Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Molecular syndromology, 2012, Vol.2 (2), p.81-87

2012

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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Molecular syndromology, 2012-06, Vol.3 (1), p.14-20

2012

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Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

The New England journal of medicine, 1998-04, Vol.338 (18), p.1317-1318

1998

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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698

2004

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Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

Journal of medical genetics, 1997-06, Vol.34 (6), p.453-458

1997

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The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

Journal of medical genetics, 2003-05, Vol.40 (5), p.352-356

2003

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Unilateral giant cell lesion of the jaw in Noonan syndrome

JBR-BTR (Bruxelles), 2014-03, Vol.97 (2), p.90

2014

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111

2010

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Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

Journal of medical genetics, 2003-01, Vol.40 (1), p.72-73

2003

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Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study

Journal of medical genetics, 2005-06, Vol.42 (6), p.519-522

2005

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Review: Facial endophenotypes in non-syndromic orofacial clefting

B-ENT (Leuven), 2015, Vol.11 (3), p.173-182

2015

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Molecular psychiatry, 2016-01, Vol.21 (1), p.133-148

2016

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Hydatidiform mole and triploidy: the role of genomic imprinting in placental development

Human reproduction update, 2005-03, Vol.11 (2), p.137-142

Devriendt, Koen

2005

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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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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

Journal of medical genetics, 2008-10, Vol.45 (10), p.672-678

2008

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Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

The annual incidence of DiGeorge/velocardiofacial syndrome

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

Unilateral giant cell lesion of the jaw in Noonan syndrome

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study

Review: Facial endophenotypes in non-syndromic orofacial clefting

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hydatidiform mole and triploidy: the role of genomic imprinting in placental development

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

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

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