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Author Details

Jayne Y Hehir-Kwa
Princess Maxima Center for Pediatric Oncology
2007
74
37
PMIDPaper TitleJournal TitlePublished Year
36685894Editorial: Long-read sequencing-Pitfalls, benefits and success stories.Front Genet2023
37400763Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS.BMC Cancer2023
35085008Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing.JCO Precis Oncol2022
35839448Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia.Blood2022
36182817Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.Eur J Cancer2022
36230794Molecular Characterization Reveals Subclasses of 1q Gain in Intermediate Risk Wilms Tumors.Cancers (Basel)2022
35916583Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes.EMBO Mol Med2022
35088940LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.Autism Res2022
34231212Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.J Pathol2021
33603161Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.Eur J Hum Genet2021
33654267Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology.NPJ Precis Oncol2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
30705424Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Mol Psychiatry2020
31665216Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.JAMA Psychiatry2020
32108037Clonal Relationship Between Lichen Sclerosus, Differentiated Vulvar Intra-epithelial Neoplasia and Non HPV-related Vulvar Squamous Cell Carcinoma.Cancer Genomics Proteomics2020
32109419Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.Am J Hum Genet2020
30568311Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.Genet Med2019
31203817Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.Genome Med2019
30929739De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.Am J Hum Genet2019
30221560The clinical implementation of copy number detection in the age of next-generation sequencing.Expert Rev Mol Diagn2018
28000701The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Eur J Hum Genet2017
28224992Diagnostic exome sequencing in 266 Dutch patients with visual impairment.Eur J Hum Genet2017
28445943A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.Oncotarget2017
28801929Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.Hum Mutat2017
28574513Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.Genet Med2017
27988846Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.Acta Neuropathol2017
27974384BRCA Testing by Single-Molecule Molecular Inversion Probes.Clin Chem2017
25585701Reply to Sajantila and Budowle.Eur J Hum Genet2016
26508759Detecting dispersed duplications in high-throughput sequencing data using a database-free approach.Bioinformatics2016
26306646The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Eur J Hum Genet2016
27708267A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.Nat Commun2016
27552964Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.Eur J Hum Genet2016
26752331De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Clin Genet2016
25347354Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories.Expert Rev Mol Diagn2015
26036857Towards a European consensus for reporting incidental findings during clinical NGS testing.Eur J Hum Genet2015
26088785Exome sequencing and whole genome sequencing for the detection of copy number variation.Expert Rev Mol Diagn2015
25887030The clustering of functionally related genes contributes to CNV-mediated disease.Genome Res2015
25883321Characteristics of de novo structural changes in the human genome.Genome Res2015
25938944A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.Nat Genet2015
25781962Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.PLoS Genet2015
23714750The Genome of the Netherlands: design, and project goals.Eur J Hum Genet2014
26258046Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.Genom Data2014
25280750Clinical interpretation of CNVs with cross-species phenotype data.J Med Genet2014
25217958Refining analyses of copy number variation identifies specific genes associated with developmental delay.Nat Genet2014
25348035Mobster: accurate detection of mobile element insertions in next generation sequencing data.Genome Biol2014
24896178Genome sequencing identifies major causes of severe intellectual disability.Nature2014
24391091Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA.Prenat Diagn2014
23942201Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).Eur J Hum Genet2014
23602711Mutations in ANTXR1 cause GAPO syndrome.Am J Hum Genet2013
24123876Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.J Med Genet2013
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Collaborators

Bert B A de Vries
Radboud University Medical Center
Co-authored papers 20
Nicole de Leeuw
Radboud University Medical Center
Co-authored papers 19
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 15
Christian Gilissen
Radboud University Medical Center
Co-authored papers 11
Patrick Kemmeren
Princess Maxima Center for Pediatric Oncology
Co-authored papers 8
Anneke T Vulto-van Silfhout
Radboud University Medical Center
Co-authored papers 7
Dorret I Boomsma
Co-authored papers 5
Abdel Abdellaoui
Co-authored papers 5
Frank C P Holstege
Princess Maxima Center for Pediatric Oncology
Co-authored papers 5
Pieternella E Slagboom
Co-authored papers 5
Kai Ye
Co-authored papers 5
Evan E Eichler
University of Washington
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Morris A Swertz
University of Groningen, University Medical Center Groningen
Co-authored papers 4
David A Koolen
Donders Institute for Brain, Radboud University Medical Center
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Alexander J M Dingemans
Donders Institute for Brain, Radboud University Medical Center
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Vidar M Steen
University of Oslo, Oslo University Hospital
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Jay Shendure
University of Washington
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Andr?? G Uitterlinden
Erasmus University Medical Center
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Cisca Wijmenga
Co-authored papers 3
Gert-Jan B van Ommen
Co-authored papers 3
Paul I W de Bakker
Vertex Pharmaceuticals
Co-authored papers 3
Cornelia M van Duijn
University of Oxford
Co-authored papers 3
Hindrik H D Kerstens
Co-authored papers 3
Chris P Ponting
The University of Edinburgh
Co-authored papers 3
Jouke-Jan Hottenga
Co-authored papers 3
Jan J Molenaar
Co-authored papers 3
Vince D Calhoun
Georgia Institute of Technology, Emory University
Co-authored papers 2
David C Glahn
Co-authored papers 2
Christoffer Nell??ker
Big Data Institute, University of Oxford
Co-authored papers 2
Thomas W M??hleisen
Institute of Neuroscience and Medicine (INM-1), Research Center Juelich
Co-authored papers 2
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