Bart DE Koning

Research output

Research output per year 2013 2015 2016 2017 2018 2023 2025

• 17 Article
• 1 Preprint

Research output per year

Research output per year

Search results

• 2025

  Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing

  Kamps, R., Martens, H., de Koning, B., Smeets, B. & van Geel, M., 1 Jun 2025, In: Molecular genetics & genomic medicine. 13, 6, 8 p., e70108.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Autosomal Dominant Inheritance 100%
  • Exome Sequencing 100%
  • Amelogenesis 100%
  • genes 100%
  • FAM83H 100%
• 2024

  Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

  Janssen, A. E. J., Koeck, R. M., Essers, R., Cao, P., van Dijk, W., Drüsedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, van Golde, R. J. T., de Wert, G., Dreesen, J. C. F. M., de Die-Smulders, C., Coonen, E., Brunner, H. G., van den Wijngaard, A., Paulussen, A. D. C. & Zamani Esteki, M., 1 Dec 2024, In: Nature Communications. 15, 1, 15 p., 7164.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Preimplantation Genetic Diagnosis 100%
  • Whole Genome Sequencing 100%
  • Clinical Grade 100%
  • Haplarithmisis 100%
  • Genetic Screening 100%
• 2023

  Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

  Janssen, A. E. J., Koeck, R. M., Essers, R., van Dijk, W., Drusedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., Cao, P., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, van Golde, R. J. T., de Wert, G., Dreesen, J. C. F. M., de Die-Smulders, C., Coonen, E., Brunner, H. G., van den Wijngaard, A., Paulussen, A. D. C. & Zamani Esteki, M., 8 Dec 2023, 32 p.

  Research output: Working paper / Preprint › Preprint

  Open Access

  • Preimplantation Genetic Diagnosis 100%
  • Whole Genome Sequencing 100%
  • Clinical Grade 100%
  • Haplarithmisis 100%
  • Genetic Screening 100%

• Clustering of Cardiac Transcriptome Profiles Reveals Unique Subgroups of Dilated Cardiomyopathy Patients

  Verdonschot, J. A. J., Wang, P., Derks, K. W. J., Adriaens, M. E., Stroeks, S. L. V. M., Henkens, M. T. H. M., Raafs, A. G., Sikking, M., de Koning, B., van den Wijngaard, A., Krapels, I. P. C., Nabben, M., Brunner, H. G. & Heymans, S. R. B., 1 Apr 2023, In: JACC: Basic to Translational Science. 8, 4, p. 406-418 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Transcriptome Profile 100%
  • Dilated Cardiomyopathy 100%
  • Cardiac Transcriptome 100%
  • Transcriptome 100%
  • patients 100%

• Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

  Panneman, D. M., Hitti-Malin, R. J., Holtes, L. K., de Bruijn, S. E., Reurink, J., Boonen, E. G. M., Khan, M. I., Ali, M., Andreasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M., de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T. & Inglehearn, C. F. & 28 others, Karali, M., Kjellstrom, U., Koenekoop, R., de Koning, B., Leroy, B. P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K. M., Poulter, J. A., Rivolta, C., de la Rua, E. R., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A. A. H. J., Toomes, C., Tracewska, A. M., Tran, H. V., Ushida, H., Vaclavik, V., Verhoeven, V. J. M., van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, F. P. M. & Roosing, S., 3 Feb 2023, In: Frontiers in Cell and Developmental Biology. 11, 1, 10 p., 1112270.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Proband 100%
  • Sequence Analysis 100%
  • Retinitis pigmentosa 100%
  • Leber Congenital Amaurosis 100%
  • Effective Sequence 100%

• Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

  Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C. & van Amstel, H. K. P. & 10 others, de Boode, W. P., van Zelst-Stams, W. A. G., Frederix, G. W. J., Vissers, L. E. L. M., RADICON-NL Consortium, DE Koning, B., van den Wijngaard, A., Sinnema, M., Stegmann, A. & Brunner La Rocca, H.-P., Jun 2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Netherlands 100%
  • Neonate 100%
  • Clinical Utility 100%
  • Genetic Disease 100%
  • First-tier Test 100%
• 2021

  Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

  Sallevelt, S. C. E. H., Stegmann, A. P. A., de Koning, B., Velter, C., Steyls, A., van Esch, M., Lakeman, P., Yntema, H., Esteki, M. Z., de Die-Smulders, C. E. M., Gilissen, C., van den Wijngaard, A., Brunner, H. G. & Paulussen, A. D. C., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1125-1136 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Clinical Practice 100%
  • Exome 100%
  • Carrier Screening 100%
  • Consanguineous 100%
  • testing 100%
• 2020

  Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

  Almomani, R., Marchi, M., Sopacua, M., Lindsey, P., Salvi, E., Koning, B. D., Santoro, S., Magri, S., Smeets, H. J. M., Martinelli Boneschi, F., Malik, R. R., Ziegler, D., Hoeijmakers, J. G. J., Boenhof, G., Dib-Hajj, S., Waxman, S. G., Merkies, I. S. J., Lauria, G., Faber, C. G. & Gerrits, M. M. & 1 others, PROPANE Study Grp, 2 Sept 2020, In: PLOS ONE. 15, 9, 15 p., 0238467.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Metagenomic Next-generation Sequencing (mNGS) 100%
  • Next-generation Sequencing 100%
  • Molecular Inversion Probes 100%
  • TruSeq 100%
  • evaluation 100%
• 2019

  Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

  Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J. & den Dunnen, J. T. & 3 others, Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec 2019, In: Human Mutation. 40, 12, p. 2230-2238 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Diagnostic Laboratory 100%
  • Dutch 100%
  • Data Sharing 100%
  • Variant Interpretation 100%
  • Accuracy Improvement 100%
• 2018

  Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

  Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 1 Apr 2018, In: European Journal of Human Genetics. 26, 4, p. 537-551 15 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  File

  • Pediatric 100%
  • Mitochondrial DNA 100%
  • Early Onset 100%
  • Brain Diseases 100%
  • Mitochondrial Myopathy 100%
  86 Downloads (Pure)

• Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

  Theunissen, T. E. J., Nguyen, M., Kamps, R., Hendrickx, A. T., Sallevelt, S. C. E. H., Gottschalk, R. W. H., Calis, C. M., Stassen, A. P. M., de Koning, B., Mulder-Den Hartog, E. N. M., Schoonderwoerd, K., Fuchs, S. A., Hilhorst-Hofstee, Y., de Visser, M., Vanoevelen, J., Szklarczyk, R., Gerards, M., de Coo, I. F. M., Hellebrekers, D. M. E. & Smeets, H. J. M., 12 Oct 2018, In: Frontiers in Genetics. 9, OCT, 17 p., 400.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Whole Exome Sequencing 100%
  • Pathogenic Variants 100%
  • Genetic Defects 100%
  • patients 100%
  • mitochondria 100%
• 2017

  A comprehensive strategy for exome-based preconception carrier screening

  Sallevelt, S. C. E. H., de Koning, B., Szklarczyk, R., Paulussen, A. D. C., de Die-Smulders, C. E. M. & Smeets, H. J. M., May 2017, In: Genetics in Medicine. 19, 5, p. 583-592 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Exome 100%
  • Whole Exome Sequencing 100%
  • Comprehensive Strategy 100%
  • Non-consanguineous 100%
  • Preconception Carrier Screening 100%

• Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing

  Theunissen, T. E. J., Sallevelt, S. C. E. H., Hellebrekers, D. M. E. I., de Koning, B., Hendrickx, A. T. M., van den Bosch, B. J. C., Kamps, R., Schoonderwoerd, K., Szklarczyk, R., Hartog, E. N. M.M.-D., de Coo, I. F. M. & Smeets, H. J. M., Mar 2017, In: The Journal of Pediatrics. 182, p. 371-374 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  • diseases 100%
  • infants 100%
  • resolution 100%
  • Whole Exome Sequencing 100%
  • Multigenic Diseases 100%
• 2016

  Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

  Nguyen, M., Boesten, I. B. W., Hellebrekers, D. M. E. I., Vanoevelen, J., Kamps, R., de Koning, B., de Coo, I. F. M., Gerards, M. & Smeets, H. J. M., Apr 2016, In: European Journal of Human Genetics. 24, 4, p. 619-622 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Cerebellar Atrophy 100%
  • Autosomal Recessive Cerebellar Ataxia 100%
  • CWF19L1 100%
  • genes 100%
  • atrophy 100%

• Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

  Theunissen, T. E. J., Szklarczyk, R., Gerards, M., Hellebrekers, D. M. E. I., Mulder-Den Hartog, E. N. M., Vanoevelen, J., Kamps, R., de Koning, B., Rutledge, S. L., Schmitt-Mechelke, T., Van Berkel, C. G. M., van der Knaap, M. S., de Coo, I. F. M. & Smeets, H. J. M., 16 Nov 2016, In: Frontiers in Neurology. 7, NOV, 8 p., 203.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • MRI Abnormalities 100%
  • Perrault Syndrome 100%
  • patients 100%
  • nmr imaging 100%
  • defects 100%
• 2015

  Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

  Jori, B., Kamps, R., Xanthoulea, S., Delvoux, B., Blok, M. J., Van de Vijver, K. K., de Koning, B., Oei, F. T., Tops, C. M., Speel, E. J. M., Kruitwagen, R. F., Gomez-Garcia, E. B. & Romano, A., 1 Dec 2015, In: Oncotarget. 6, 38, p. 41108-41122

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Germ Cells 100%
  • Poor Clinical Outcomes 100%
  • Next-generation Sequencing 100%
  • Lynch Syndrome 100%
  • Estrogen 100%

• Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

  Vrijenhoek, T., Kraaijeveld, K., Elferink, M., de Ligt, J., Kranendonk, E., Santen, G., Nijman, I. J., Butler, D., Claes, G., Costessi, A., Dorlijn, W., van Eyndhoven, W., Halley, D. J. J., van den Hout, M. C. G. N., van Hove, S., Johansson, L. F., Jongbloed, J. D. H., Kamps, R., Kockx, C. E. M. & de Koning, B. & 28 others, Kriek, M., Deprez, R. L. D., Lunstroo, H., Mannens, M., Mook, O. R., Nelen, M., Ploem, C., Rijnen, M., Saris, J. J., Sinke, R., Sistermans, E., van Slegtenhorst, M., Sleutels, F., van der Stoep, N., van Tienhoven, M., Vermaat, M., Vogel, M., Waisfisz, Q., Weiss, J. M., van den Wijngaard, A., van Workum, W., Ijntema, H., van der Zwaag, B., van IJcken, W. F. J., den Dunnen, J., Veltman, J. A., Hennekam, R. & Cuppen, E., Sept 2015, In: European Journal of Human Genetics. 23, 9, p. 1142-1150

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Next-generation Sequencing 100%
  • Genome Diagnostics 100%
  • Next-generation DNA Sequencing 100%
  • Clinical Genetics 100%
  • patients 100%
• 2013

  Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

  Gerards, M., Kamps, R., van Oevelen, J., Boesten, I., Jongen, E., de Koning, B., Scholte, H. R., de Angst, I., Schoonderwoerd, K., Sefiani, A., Ratbi, I., Coppieters, W., Karim, L., de Coo, R., van den Bosch, B. & Smeets, H., Mar 2013, In: Brain. 136, Pt 3, p. 882-90 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

  • Moroccan 100%
  • Founder mutation 100%
  • Early childhood 100%
  • Exome Sequencing 100%
  • Leigh Syndrome 100%