Lelieveld, Stefan H.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

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

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 163

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., et al. (2018) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 81

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., et al. (2017) · Nature Communications

Genetics and Neurodevelopmental DisordersPI3K/AKT/mTOR signaling in cancer

Cited by 76

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 36

Comparison of sequence- and structure-based antibody clustering approaches on simulated repertoire sequencing data

Waury, K., Lelieveld, S., Abeln, S., & van den Ham, H.-J. (2025) · PLOS Computational Biology

vaccines and immunoinformatics approachesMonoclonal and Polyclonal Antibodies Research

Cited by 1

Comparison of sequence- and structure-based antibody clustering approaches on simulated repertoire sequencing data

Waury, K., Lelieveld, S. H., Abeln, S., & van den Ham, H.-J. (2024) · PLoS Computational Biology

vaccines and immunoinformatics approachesMonoclonal and Polyclonal Antibodies Research

Cited by 1