List of works - Nicole de Leeuw

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Diagnostic genome profiling in mental retardation

scientific article

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

scientific article

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

scientific article published on March 2009

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

scientific article

Guidelines for molecular karyotyping in constitutional genetic diagnosis

scientific article

Detection of clinically relevant copy number variants with whole-exome sequencing

scientific article

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

scientific article

Clinical significance of de novo and inherited copy-number variation

scientific article published on 10 October 2013

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scientific article

Diagnostic interpretation of array data using public databases and internet sources

scientific article

Novel genetic causes for cerebral visual impairment

scientific article

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

scientific article published on 14 September 2011

The phenotype of recurrent 10q22q23 deletions and duplications

scientific article

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

scientific article published in July 2009

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

scientific article published on 31 December 2015

Genome-wide arrays in routine diagnostics of hematological malignancies

scientific article published on 09 April 2012

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

scientific article published on 25 August 2016

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

scientific article

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

scientific article

The clustering of functionally related genes contributes to CNV-mediated disease

scientific article

Homozygosity mapping in outbred families with mental retardation

scientific article

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

scientific article published on 22 May 2013

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

scientific article published in March 2006

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

scientific article published on 16 January 2014

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

scientific article

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

scientific article published on May 2007

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

scientific article published on 01 April 2012

Further refinement of the candidate region for monosomy 9p syndrome

scientific article published on 01 October 2007

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

scientific article published on 01 September 2010

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

scientific article published in December 2014

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

scientific article published on 14 July 2012

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

scientific article

Duplications of SLC1A3: Associated with ADHD and autism

scientific article published on 10 June 2016

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities

scientific article published on 19 July 2008

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

scientific article published on June 17, 2015

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

scientific article published on 17 March 2015

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

scientific article published on September 2015

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

scientific article published on 16 January 2014

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

scientific article published on November 27, 2011

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

scientific article published on 19 March 2009

Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome

scientific article published on January 2, 2014

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

scientific article published on 25 March 2014

List of works by Nicole de Leeuw

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Diagnostic genome profiling in mental retardation

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Detection of clinically relevant copy number variants with whole-exome sequencing

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

Clinical significance of de novo and inherited copy-number variation

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Diagnostic interpretation of array data using public databases and internet sources

Novel genetic causes for cerebral visual impairment

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

The phenotype of recurrent 10q22q23 deletions and duplications

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Genome-wide arrays in routine diagnostics of hematological malignancies

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

The clustering of functionally related genes contributes to CNV-mediated disease

Homozygosity mapping in outbred families with mental retardation

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

Further refinement of the candidate region for monosomy 9p syndrome

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

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

Duplications of SLC1A3: Associated with ADHD and autism

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities

Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects

Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome

Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region