Suzanna G.M. Frints

机构：Maastricht University · ORCID：0000-0002-5027-8364

发表论文 75 篇 · 总被引 6162 次 · h-index 33

代表论文

• Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus (2006 · Nature Genetics · 被引 922)
• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome (2007 · The American Journal of Human Genetics · 被引 455)
• X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes (2015 · Molecular Psychiatry · 被引 316)
• Non-invasive prenatal testing: ethical issues explored (2009 · European Journal of Human Genetics · 被引 235)
• Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome (2009 · European Journal of Medical Genetics · 被引 218)
• Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study (2013 · The Lancet Neurology · 被引 186)