Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, , 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Borroto, M. C., Michaud, C., Hudon, C., Agrawal, P. B., Agre, K., Applegate, C. D., Beggs, A. H., Bjornsson, H. T., Callewaert, B., Chen, M. J., Curry, C., Devinsky, O., Dudding-Byth, T., Fagan, K., Finnila, C. R., Gavrilova, R., Genetti, C. A., Hiatt, S. M., Hildebrandt, F. & Wojcik, M. H. & 18 others, , Aug 2024, In: Genes. 15, 8, 1033.Research output: Contribution to journal › Article › Academic › peer-review
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Genetic outcomes in children with developmental language disorder: a systematic review
van Wijngaarden, V., de Wilde, H., Mink van der Molen, D., Petter, J., Stegeman, I., Gerrits, E., Smit, A. L. & van den Boogaard, M.-J., 17 Jan 2024, In: Frontiers in Pediatrics. 12, 18 p., 1315229.Research output: Contribution to journal › Review article › peer-review
Open AccessFile15 Downloads (Pure) -
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Gong, M., Li, J., Qin, Z., Machado Bressan Wilke, M. V., Liu, Y., Li, Q., Liu, H., Liang, C., Morales-Rosado, J. A., Cohen, A. S. A., Hughes, S. S., Sullivan, B. R., Waddell, V., van den Boogaard, M. J. H., van Jaarsveld, R. H., van Binsbergen, E., van Gassen, K. L., Wang, T., Hiatt, S. M. & Amaral, M. D. & 47 others, , 7 Nov 2024, In: American Journal of Human Genetics. 111, 11, p. 2392-2410 19 p.Research output: Contribution to journal › Article › Academic › peer-review
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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, , Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile
Activities
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NVHG najaarssymposium, (Papendal)
MJH van den Boogaard (Speaker)
3 Oct 2013 → 4 Oct 2013Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic
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Facing clefting
MJH van den Boogaard (Speaker)
8 Jun 2010Activity: Talk or presentation › Oral presentation › Academic
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genetic aspects of clefting
MJH van den Boogaard (Speaker)
15 Apr 2010Activity: Talk or presentation › Oral presentation › Academic
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Course Reproductive Toxicology (Utrecht)
MJH van den Boogaard (Invited speaker)
12 Apr 2010Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic
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atypical and distal 22q11.2 deletions - an overview
MJH van den Boogaard (Speaker)
28 Jan 2010Activity: Talk or presentation › Oral presentation › Academic