List of works - Jayne Y Hehir-Kwa

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

scientific article published on 22 March 2021

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

scientific article

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

scientific article published on 06 October 2016

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

scientific article

Accurate distinction of pathogenic from benign CNVs in mental retardation

scientific article

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

scientific article

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

scientific article published on 30 October 2019

BRCA Testing by Single-Molecule Molecular Inversion Probes

scientific article

Characteristics of de novo structural changes in the human genome

scientific article

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

scientific article published in January 2010

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

scientific article published on 24 August 2016

Clinical interpretation of CNVs with cross-species phenotype data

scientific article

Clinical significance of de novo and inherited copy-number variation

scientific article published on 10 October 2013

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis

scientific article published on 17 December 2016

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

scientific article published on 01 March 2020

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

scientific article

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

scientific article published on 06 February 2014

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

scientific article

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

scientific article published on 27 October 2016

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Diagnostic interpretation of array data using public databases and internet sources

scientific article

Exome sequencing and whole genome sequencing for the detection of copy number variation

scientific article published on 18 June 2015

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

scientific article published on 17 June 2019

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

scientific article published on 26 June 2009

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

Genome sequencing identifies major causes of severe intellectual disability

scientific article

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

scientific article

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

scientific article published on March 2009

Homozygosity mapping in outbred families with mental retardation

scientific article

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

scientific article published in December 2007

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

scientific article

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

Mobster: accurate detection of mobile element insertions in next generation sequencing data

scientific article

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

scientific article published in July 2009

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

scientific article published on 20 December 2018

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

scientific article published in December 2014

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

scientific article published on 14 August 2013

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Reduced purifying selection prevails over positive selection in human copy number variant evolution

scientific article (publication date: November 2008)

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

scientific article

Reply to Sajantila and Budowle

scientific article published on 14 January 2015

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

scientific article

The Genome of the Netherlands: design, and project goals

scientific article (publication date: February 2014)

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

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

scientific article

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

scientific article published on 21 December 2016

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

scientific article published on 11 August 2017

List of works by Jayne Y Hehir-Kwa

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients

Accurate distinction of pathogenic from benign CNVs in mental retardation

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

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

BRCA Testing by Single-Molecule Molecular Inversion Probes

Characteristics of de novo structural changes in the human genome

Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?

Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes

Clinical interpretation of CNVs with cross-species phenotype data

Clinical significance of de novo and inherited copy-number variation

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

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

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

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

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

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Diagnostic interpretation of array data using public databases and internet sources

Exome sequencing and whole genome sequencing for the detection of copy number variation

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

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

Genome sequencing identifies major causes of severe intellectual disability

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

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

Homozygosity mapping in outbred families with mental retardation

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

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

Mobster: accurate detection of mobile element insertions in next generation sequencing data

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

Mutations in ANTXR1 cause GAPO syndrome.

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

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

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Reduced purifying selection prevails over positive selection in human copy number variant evolution

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

Reply to Sajantila and Budowle

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

The Genome of the Netherlands: design, and project goals

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

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

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Towards a European consensus for reporting incidental findings during clinical NGS testing

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia