Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
2006 · Nature Genetics · 883 citations
https://doi.org/10.1038/ng1845
S
Suzanna G.M. Frints
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Suzanna G.M. Frints is an academic researcher from Maastricht University. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities & Prenatal Screening and Diagnostics. The author has an h-index of 34, co-authored 66 publications.
ORCID: 0000-0002-5027-8364Papers by this author
worksX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
2015 · Molecular Psychiatry · 302 citations
https://doi.org/10.1038/mp.2014.193
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
2007 · Human Mutation · 121 citations
https://doi.org/10.1002/humu.9482
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
2008 · European Journal of Human Genetics · 71 citations
https://doi.org/10.1038/ejhg.2008.66
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
2022 · Nature Communications · 43 citations
https://doi.org/10.1038/s41467-022-34264-y
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