Isabel Filges

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

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, Nobuhiko Okamoto et al. · Journal of Medical Genetics · 2010 · 123 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, Elisabeth Bruder et al. · Clinical Genetics · 2013 · 105 citations

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

Isabel Filges, Anjeung Kang, Vanessa Klug et al. · Prenatal Diagnosis · 2011 · 86 citations

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

Isabel Filges, Irina Manokhina, Maria S. Peñaherrera et al. · Molecular Human Reproduction · 2014 · 85 citations · Full text

Cytogenetics, Genetics, Reproductive Health +17