Kwint, Michael

Genome sequencing identifies major causes of severe intellectual disability

Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 1,125

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

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., et al. (2018) · The American Journal of Human Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 42

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

Khazeeva, G., Sablauskas, K., van der Sanden, B., Steyaert, W., Kwint, M., Rots, D., Hinne, M., van Gerven, M., Yntema, H., Vissers, L., et al. (2022) · Nucleic Acids Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 30

A proteogenomic atlas of the human neural retina

Riepe, T. V., Stemerdink, M., Salz, R., Rey, A. D., de Bruijn, S. E., Boonen, E., Tomkiewicz, T. Z., Kwint, M., Gloerich, J., Wessels, H. J. C. T., et al. (2024) · Frontiers in Genetics

RNA Research and SplicingAdvanced Proteomics Techniques and Applications

Cited by 5