J. Hehir-Kwa

发表

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

Kali T. Witherspoon, Bradley P. Coe, J. Shendure, 2014, Nature Genetics.

The Genome of the Netherlands: design, and project goals

Pieter B. T. Neerincx, Jeroen F. J. Laros, David van Enckevort, 2013, European Journal of Human Genetics.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

Supplementary Information Whole-genome sequence variation , population structure and demographic history of the Dutch population

Pieter B. T. Neerincx, Jeroen F. J. Laros, David van Enckevort, 2022 .

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

Kai Ye, Jayne Y Hehir-Kwa, J. Hehir-Kwa, 2014, Genome Biology.

Genome sequencing identifies major causes of severe intellectual disability

L. Vissers, A. Hoischen, R. Pfundt, 2014, Nature.

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

Gabrielle M. Christenhusz, Peter N. Robinson, J. Hehir-Kwa, 2015, European Journal of Human Genetics.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2011, Journal of Medical Genetics.

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

Borut Peterlin, David E Barton, Jayne Y Hehir-Kwa, 2013, European Journal of Human Genetics.

Mutations in ANTXR1 cause GAPO syndrome.

A. Hoischen, J. Hehir-Kwa, H. Brunner, 2013, American journal of human genetics.

Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome

L. Vissers, J. Hehir-Kwa, B. D. de Vries, 2021, European Journal of Human Genetics.

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

P. Kemmeren, L. Vissers, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in Medicine.

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

Erik Sistermans, Nicole de Leeuw, Rolph Pfundt, 2009, Human mutation.

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

Michael Egmont-Petersen, Jayne Y. Hehir-Kwa, Joris A. Veltman, 2007, DNA research : an international journal for rapid publication of reports on genes and genomes.

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

Luminita Moruz, Andreas Dufke, Olaf Riess, 2009, Human mutation.

Clinical interpretation of CNVs with cross-species phenotype data

Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, 2014, Journal of Medical Genetics.

Detection of Clinically Relevant Copy Number Variants with Whole‐Exome Sequencing

Todd Richmond, Rolph Pfundt, L. Vissers, 2013, Human mutation.

A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

Morris A. Swertz, Jasmijn A. Baaijens, Victor Guryev, 2016, bioRxiv.

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

R. Pfundt, J. Hehir-Kwa, J. Veltman, 2015, Expert review of molecular diagnostics.

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

J. Schuurs-Hoeijmakers, A. Hoischen, J. Hehir-Kwa, 2019, Genome Medicine.

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

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2013, Journal of Medical Genetics.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

Pieter B. T. Neerincx, Jeroen F. J. Laros, A. Hofman, 2019, Scientific Reports.

De novo loss‐of‐function mutations in X‐linked SMC1A cause severe ID and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum

R. Pfundt, J. Hehir-Kwa, J. Veltman, 2016, Clinical genetics.

Gene Networks Underlying Convergent and Pleiotropic Phenotypes in a Large and Systematically-Phenotyped Cohort with Heterogeneous Developmental Disorders

A. V. Vulto-van Silfhout, R. Pfundt, N. de Leeuw, 2015, PLoS genetics.

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

A. Hoischen, R. Pfundt, J. Hehir-Kwa, 2016, European Journal of Human Genetics.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

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

Dan J Stein, Lachlan T. Strike, Thomas W. Mühleisen, 2020, JAMA psychiatry.

Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing

P. Kemmeren, P. Lijnzaad, F. Holstege, 2022, JCO precision oncology.

Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors

P. Kemmeren, F. Holstege, J. Hehir-Kwa, 2022, bioRxiv.

The clinical implementation of copy number detection in the age of next-generation sequencing

P. Kemmeren, J. Hehir-Kwa, B. Tops, 2018, Expert review of molecular diagnostics.

Identifying long indels in exome sequencing data of patients with intellectual disability

L. Vissers, R. Pfundt, J. Hehir-Kwa, 2018, bioRxiv.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

R. Pfundt, J. Hehir-Kwa, E. Bongers, 2012, American journal of human genetics.

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’

David C. Jones, P. Kemmeren, F. Holstege, 2022, European journal of cancer.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Homozygosity mapping in outbred families with mental retardation

J. Schuurs-Hoeijmakers, R. Pfundt, J. Hehir-Kwa, 2011, European Journal of Human Genetics.

LRFN5 locus structure is influenced by the individual’s sex and associated with autism

N. de Leeuw, J. Hehir-Kwa, S. Mundlos, 2021 .

Clinical Significance of De Novo and Inherited Copy‐Number Variation

A. V. Vulto-van Silfhout, J. Schuurs-Hoeijmakers, R. Pfundt, 2013, Human mutation.

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Caleb Webber, Chris P. Ponting, Christian Gilissen, 2010, PLoS Comput. Biol..

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

N. de Leeuw, J. Hehir-Kwa, A. Smits, 2010, Journal of Medical Genetics.

Constitutional DNA copy number changes in ICSI children.

J. Hehir-Kwa, I. Janssen, E. Schoenmakers, 2008, Human reproduction.

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

L. Vissers, A. Hoischen, J. Hehir-Kwa, 2017, Human mutation.

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

Caleb Webber, Chris P. Ponting, Jayne Y. Hehir-Kwa, 2009, PLoS genetics.

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

R. Pfundt, J. Hehir-Kwa, C. Ponting, 2008, Genome research.

Characteristics of de novo structural changes in the human genome

Alexander Schönhuth, Edwin Cuppen, Victor Guryev, 2015, Genome research.

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

A. Hoischen, N. de Leeuw, J. Hehir-Kwa, 2011, Clinical genetics.

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

Lachlan T. Strike, Thomas W. Mühleisen, A. McRae, 2021, Translational Psychiatry.

Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology

P. Kemmeren, J. Hehir-Kwa, A. Schönhuth, 2021, npj Precision Oncology.

Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma

J. Hehir-Kwa, A. Eijkelenboom, R. Kuiper, 2020, Cancer Genomics & Proteomics.

High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression

J. Hehir-Kwa, A. V. van Kessel, R. Kuiper, 2007, Leukemia.

Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

Pieter B. T. Neerincx, O. Franco, A. Hofman, 2015, Nature communications.

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

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2017, Clinical chemistry.

Detecting dispersed duplications in high-throughput sequencing data using a database-free approach

Kai Ye, Joost N. Kok, Eric-Wubbo Lameijer, 2016, Bioinform..

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

Alexandros Kanterakis, Mark Santcroos, David van Enckevort, 2016, Nature Communications.

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

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2015, Nature Genetics.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

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

Caleb Webber, Bert de Vries, Nicole de Leeuw, 2015, Genome research.

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

N. de Leeuw, J. Hehir-Kwa, D. Smeets, 2011, Cytogenetic and Genome Research.

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

A. Hoischen, J. Hehir-Kwa, J. Biegel, 2021, The Journal of pathology.

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

P. Kemmeren, L. Vissers, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS

P. Kemmeren, F. Holstege, J. Hehir-Kwa, 2021, bioRxiv.

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

R. Pfundt, N. de Leeuw, J. Hehir-Kwa, 2012, European journal of medical genetics.

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

R. Pfundt, J. Hehir-Kwa, M. Nelen, 2016, European Journal of Human Genetics.

Lineage switching in MLL-AF 4 leukaemias 1 Epigenetic regulator genes direct lineage switching in MLL-AF 4 leukaemia 1

Salam A. Assi, J. Hehir-Kwa, Z. Kingsbury, 2021 .

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

Nicole de Leeuw, Jayne Y Hehir-Kwa, A. V. Vulto-van Silfhout, 2013, European journal of medical genetics.

Diagnostic interpretation of array data using public databases and internet sources

L. Feuk, N. Carter, N. de Leeuw, 2012, Human mutation.

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

Vincent Frouin, Norman Delanty, Katrin Amunts, 2018, Molecular Psychiatry.

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

B. J. Klevering, J. Hehir-Kwa, T. Strom, 2011, Investigative ophthalmology & visual science.

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

J. Hehir-Kwa, T. Meitinger, T. Strom, 2007, Investigative ophthalmology & visual science.

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

J. Hehir-Kwa, B. Faas, D. T. Thung, 2015, Expert review of molecular diagnostics.

Epigenetic regulator genes direct lineage switching in MLL-AF4 leukaemia

Salam A. Assi, J. Hehir-Kwa, Z. Kingsbury, 2021, bioRxiv.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

R. Pfundt, J. Hehir-Kwa, C. Klaver, 2017, European Journal of Human Genetics.

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

J. Hehir-Kwa, P. Wesseling, B. Küsters, 2017, Acta Neuropathologica.

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions

N. de Leeuw, J. Hehir-Kwa, S. Mundlos, 2022, Autism Research.

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

A. Hoischen, J. Hehir-Kwa, M. Nelen, 2017, Oncotarget.

Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes

P. Kemmeren, Mariël Brok, F. Holstege, 2022, bioRxiv.

Trecode: a FAIR eco-system for the analysis and archiving of omics data in a combined diagnostic and research setting

Patrick Kemmeren, Hindrik HD Kerstens, Jayne Y Hehir-Kwa, 2020, bioRxiv.

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

Knut K. Kolskår, Dan J Stein, Lachlan T. Strike, 2018, Molecular Psychiatry.

Editorial: Long-read sequencing—Pitfalls, benefits and success stories

J. Hehir-Kwa, Shilpa Garg, Inken Wohlers, 2023, Frontiers in Genetics.

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

R. Pfundt, J. Hehir-Kwa, H. Brunner, 2010, Clinical Dysmorphology.

Beyond the Global Brain Differences: Intra-individual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers

Dan J Stein, Lachlan T. Strike, Vince D. Calhoun, 2023, Biological Psychiatry.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

R. Pfundt, J. Hehir-Kwa, E. Bongers, 2012, American journal of human genetics.

Whole-genome sequence variation, population structure and demographic history of the Dutch population

Pieter B. T. Neerincx, R. Handsaker, J. Hehir-Kwa, 2014, Nature Genetics.

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

L. Vissers, R. Pfundt, N. de Leeuw, 2014, Genomics data.

Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia

Salam A. Assi, J. Hehir-Kwa, Z. Kingsbury, 2022, Blood.

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

J. Hehir-Kwa, N. Leeuw, R. Pfundt, 2011, Cytogenetic and Genome Research.