Isabella Rau

Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations

Ute Moog, Kerstin Kutsche, Fanny Kortüm et al. · Journal of Medical Genetics · 2011 · 136 citations

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Andreas Gal, Isabella Rau, L. El Matri et al. · The American Journal of Human Genetics · 2011 · 92 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Antje K. Huebner, Marta Gandía, Peter Frommolt et al. · The American Journal of Human Genetics · 2011 · 85 citations · Full text

Genome Instability, Protein Responsive, Genetic Disorder +9

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau et al. · The American Journal of Human Genetics · 2010 · 83 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +5

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

Sina Renner, H. Gregg Schuler, Malik Alawi et al. · Genetics in Medicine · 2019 · 48 citations · Full text

Hereditary Aortopathies, Mendelian Disorder, Autoimmune Disease +11