Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 · Nature Communications · 209 citations
https://doi.org/10.1038/s41467-020-18723-y
G
Gijs W.E. Santen
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Gijs W.E. Santen is an academic researcher from Leiden University Medical Center. The author has contributed to research in topics: Genomics and Rare Diseases & Chromatin Remodeling and Cancer & Genetics and Neurodevelopmental Disorders. The author has an h-index of 40, co-authored 142 publications.
ORCID: 0000-0003-1959-3267Papers by this author
worksDe Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
2017 · The American Journal of Human Genetics · 197 citations
https://doi.org/10.1016/j.ajhg.2017.10.003
Skewed X-inactivation is common in the general female population
2018 · European Journal of Human Genetics · 178 citations
https://doi.org/10.1038/s41431-018-0291-3
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
2021 · Human Genetics and Genomics Advances · 152 citations
https://doi.org/10.1016/j.xhgg.2021.100075
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
2018 · Genetics in Medicine · 132 citations
https://doi.org/10.1038/s41436-018-0330-z
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
2018 · Genetics in Medicine · 106 citations
https://doi.org/10.1038/gim.2017.221
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