Research output per year
Research output per year
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Dive into the research topics where Arjan Bouman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 33 Article
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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J. M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E., Gardeitchik, T., Aarts, L. A., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, , 17 Nov 2025, In: The Journal of clinical investigation. 135, 22Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A clinical and genotype-phenotype analysis of MACF1 variants
Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, , 2 Oct 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.Research output: Contribution to journal › Article › Academic › peer-review
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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
Smits, D. J., Debuy, C., Brooks, A. S., Schot, R., Ferraro, F., Rots, D., Bouman, A., Verhoeven, V. J. M., Kaat, L. D., Kant, S. G., van Bever, Y., Demirdas, S., Zeidler, S., van Dooren, M. F., Donze, S. H., Hoefsloot, L. H., van Slegtenhorst, M. A., Wilke, M., Sleutels, F. & Drost, M. & 14 others, , 29 Jul 2025, (E-pub ahead of print) In: European Journal of Human Genetics. 33, 10, p. 1281-1289 9 p.Research output: Contribution to journal › Article › Academic › peer-review
4 Citations (Web of Science) -
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
van Oirsouw, A. S. E., Hadders, M. A., Koetsier, M., Peters, E. D. J., Batzir, N. A., Barakat, T. S., Baralle, D., Beil, A., Bonnet-Dupeyron, M.-N., Boone, P. M., Bouman, A., Carere, D. A., Cogne, B., Dunnington, L., Farach, L. S., Genetti, C. A., Isidor, B., Januel, L., Joshi, A. & Lahiri, N. & 11 others, , 27 May 2025, (E-pub ahead of print) In: Human Molecular Genetics. 34, 16, p. 1353-1367 15 p., ddaf082.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure) -
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Guillouet, C., Agostini, V., University of Washington Center for Mendelian Genomics, Baujat, G., Cocciadiferro, D., Pippucci, T., Lesieur-Sebellin, M., Georget, M., Schatz, U., Fauth, C., Louie, R. J., Rogers, C., Davis, J. M., Konstantopoulou, V., Mayr, J. A., Bouman, A., Wilke, M., VanNoy, G. E., England, E. M. & Park, K. L. & 33 others, , 3 Apr 2025, In: American Journal of Human Genetics. 112, 4, p. 829-845 17 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)