Isabel Filges
University of Basel(CH)University Hospital of Basel(CH)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Genetic and Kidney Cyst Diseases, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome(2010)123 cited
- → Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype(2013)105 cited
- → Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes(2014)92 cited
- → Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants(2014)86 cited
- → aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis(2011)86 cited