Nelen, Marcel R.

Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

Brunner, H. G., Nelen, M., Breakefield, X. O., Ropers, H. H., & van Oost, B. A. (1993) · Science

Genetics and Neurodevelopmental DisordersNeurotransmitter Receptor Influence on Behavior

Cited by 1,644

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Presence of Genetic Variants Among Young Men With Severe COVID-19

van der Made, C. I., Simons, A., Schuurs-Hoeijmakers, J., van den Heuvel, G., Mantere, T., Kersten, S., van Deuren, R. C., Steehouwer, M., van Reijmersdal, S. V., Jaeger, M., et al. (2020) · JAMA

Immunodeficiency and Autoimmune DisordersCOVID-19 Clinical Research Studies

Cited by 789

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Lelieveld, S. H., Reijnders, M. R. F., Pfundt, R., Yntema, H. G., Kamsteeg, E.-J., de Vries, P., de Vries, B. B. A., Willemsen, M. H., Kleefstra, T., Löhner, K., et al. (2016) · Nature Neuroscience

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 442

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.

van der Zwaag, B., Staal, W. G., Hochstenbach, R., Poot, M., Spierenburg, H. A., de Jonge, M. V., Verbeek, N. E., van 't Slot, R., van Es, M. A., Staal, F. J., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 108

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

van der Sanden, B. P. G. H., Schobers, G., Corominas Galbany, J., Koolen, D. A., Sinnema, M., van Reeuwijk, J., Stumpel, C. T. R. M., Kleefstra, T., de Vries, B. B. A., Ruiterkamp-Versteeg, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 97