Benno Röthlisberger

New insights into the performance of human whole-exome capture platforms

Janine Meienberg, K. Žerjavic, Irene Keller et al. · Nucleic Acids Research · 2015 · 141 citations · Full text

Engineering, Genetics, Molecular Biology +21

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat et al. · Nature Communications · 2016 · 141 citations · Full text

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

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

Benno Röthlisberger, Dieter Kotzot, Lukrecija Brečević et al. · European Journal of Human Genetics · 1999 · 104 citations · Full text

Biology, Chromatin, Genome Instability +11