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Jayne Y. Hehir-Kwa

Jayne Y. Hehir-Kwa

D-Index & Metrics

Genetics

D-Index
49
Citations
9528
World Ranking
3999
National Ranking
144

Overview

Jayne Y. Hehir-Kwa is affiliated with Radboud University in the Netherlands. Their research spans multiple fields within medicine, biochemistry, genetics, and molecular biology, with a particular focus on molecular biology, genetics, cancer research, oncology, and hematology.

The scientist's work extensively covers topics related to cancer genomics and diagnostics, acute lymphoblastic leukemia research, neuroblastoma research and treatments, genomic variations and chromosomal abnormalities, genomics and rare diseases, acute myeloid leukemia research, and sarcoma diagnosis and treatment.

Key recent papers authored or co-authored by Jayne Y. Hehir-Kwa include:

  • Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders (2020), The American Journal of Human Genetics
  • Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology (2021), npj Precision Oncology
  • Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia (2022), Blood
  • Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2021), The American Journal of Human Genetics
  • Mesenchymal tumor organoid models recapitulate rhabdomyosarcoma subtypes (2022), EMBO Molecular Medicine

Frequent co-authors contributing to the scientist's research include:

  • Bastiaan B.J. Tops
  • Patrick Kemmeren
  • Eugène T.P. Verwiel
  • Lennart Kester
  • Marc van Tuil

Their publications are often found in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Blood
  • European Journal of Cancer
  • HemaSphere
  • The American Journal of Human Genetics

The research primarily contributes to areas including cancer genomics and diagnostics, reflecting a broad engagement in genomics, cancer biology, and hematological studies that intersect with clinical oncology. Their work addresses both fundamental molecular mechanisms and translational aspects of rare and common diseases.

Best Publications

  • Genome sequencing identifies major causes of severe intellectual disability

    Christian Gilissen;Jayne Y. Hehir-Kwa;Djie Tjwan Thung;Maartje van de Vorst

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

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

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

    Laurent C. Francioli;Androniki Menelaou;Sara L. Pulit;Freerk van Dijk

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

    R.P. Kuiper;E.F.P.M. Schoenmakers;S.V. van Reijmersdal;J.Y. Hehir-Kwa

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

    Robbert D A Weren;Marjolijn J L Ligtenberg;C Marleen Kets;Richarda M de Voer

  • The Genome of the Netherlands: design, and project goals

    Dorret I. Boomsma;Cisca Wijmenga;Eline P. Slagboom;Morris A. Swertz

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

    David A. Koolen;Rolph Pfundt;Nicole de Leeuw;Jayne Y. Hehir-Kwa

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

    Rolph Pfundt;Marisol del Rosario;Lisenka E.L.M. Vissers;Michael P. Kwint

  • Characteristics of de novo structural changes in the human genome

    Wigard P. Kloosterman;Laurent C. Francioli;Tobias Marschall;Jayne Y. Hehir-Kwa

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

    David A. Koolen;Rolph Pfundt;Katrin Linda;Gea Beunders

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

    B H W Faas;I van der Burgt;A J A Kooper;R Pfundt

  • Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

    B W M van Bon;A Hoischen;J Hehir-Kwa;A P M de Brouwer

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

    Mireille Claustres;Viktor Kožich;Els Dequeker;Brain Fowler

  • Clinical significance of de novo and inherited copy-number variation.

    A.T. van Silfhout;J.Y. Hehir-Kwa;B.W.M. van Bon;J.H.M. Schuurs-Hoeijmakers

  • 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

    Jayne Y. Hehir-Kwa;Michael Egmont-Petersen;Irene M. Janssen;Dominique Smeets

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

    Jayne Y Hehir-Kwa;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Lisenka E Vissers;Nicole de Leeuw

  • Diagnostic exome sequencing in 266 Dutch patients with visual impairment

    Lonneke Haer-Wigman;Wendy A. G. van Zelst-Stams;Rolph Pfundt;L. Ingeborgh van den Born

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

    Joep de Ligt;Philip M. Boone;Rolph Pfundt;Lisenka E.L.M. Vissers

  • Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources

    Nicole de Leeuw;Trijnie Dijkhuizen;Jayne Y. Hehir-Kwa;Nigel P. Carter

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

    Duc-Quang Nguyen;Caleb P Webber;Jayne Hehir-Kwa;Rolph Pfundt

Frequent Co-Authors

Joris A. Veltman
Joris A. Veltman University of Edinburgh
Rolph Pfundt
Rolph Pfundt Radboud University
Han G. Brunner
Han G. Brunner Radboud University
Lisenka E.L.M. Vissers
Lisenka E.L.M. Vissers Radboud University
Alexander Hoischen
Alexander Hoischen Radboud University
Christian Gilissen
Christian Gilissen Radboud University
Simon E. Fisher
Simon E. Fisher Max Planck Society
Abdel Abdellaoui
Abdel Abdellaoui University of Amsterdam
Per Hoffmann
Per Hoffmann University of Bonn
Ad Geurts van Kessel
Ad Geurts van Kessel Radboud University

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