Suzanna G.M. Frints

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Congenital heart defects research, Genetic Syndromes and Imprinting

Most-Cited Works

• → Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus(2006)883 cited
• → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
• → Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia(2001)432 cited
• → Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy(2002)431 cited
• → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
• → A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation(1999)296 cited
• → A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation(2000)236 cited
• → Non-invasive prenatal testing: ethical issues explored(2009)228 cited
• → Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome(2009)218 cited
• → Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study(2013)182 cited