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Isabel Filges | Researchclopedia

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Isabel Filges

University of Basel ORCID

98

Works

1,838

Citations

24

h-index

34

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases

Affiliations

Boston Children's Hospital2011–2012

University of Bonn2002–2002

University of British Columbia2012–2018

University of Basel2010–2026

University Hospital of Lausanne2005–2005

Top Works

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT,Beata Nowakowska,et al.

2012243 citations

Genetic and Kidney Cyst Diseases

Neurogenetic and Muscular Disorders Research

Reduced expression by <i>SETBP1</i> haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome

Isabel Filges,Keiko Shimojima,et al.

2010123 citations

Exome sequencing identifies mutations in <i><scp>KIF14</scp></i> as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Isabel Filges,Ekaterina Nosova,et al.

2013105 citations

Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

Isabel Filges,Jan M. Friedman

201492 citations

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants

Isabel Filges,Irina Manokhina,et al.

201486 citations

aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis

Isabel Filges,Anjeung Kang,et al.

201186 citations

Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis

Isabel Filges,Judith G. Hall

201376 citations

Mosaic ring chromosome 8: Clinical and array‐CGH findings in partial trisomy 8

Isabel Filges,Benno Röthlisberger,et al.

200873 citations

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

Nicole Meier,Elisabeth Bruder,et al.

201971 citations