Simone Schaich

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Susanne Kohl, Frauke Coppieters, Françoise Meire et al. · The American Journal of Human Genetics · 2012 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

Veronique Kitiratschky, Tanja Grau, Antje Bernd et al. · European Journal of Human Genetics · 2008 · 61 citations · Full text

Life Sciences, Genetics, Neuroscience +7

Comprehensive cDNA study and quantitative transcript analysis of mutant<i>OPA1</i>transcripts containing premature termination codons

Simone Schimpf, Nico Fuhrmann, Simone Schaich et al. · Human Mutation · 2007 · 46 citations

Life Sciences, Genetics, Molecular Genetics +15

Large deletions of the<i>KCNV2</i>gene are common in patients with cone dystrophy with supernormal rod response

Bernd Wissinger, Simone Schaich, Britta Baumann et al. · Human Mutation · 2011 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

Valério Carelli, Simone Schimpf, Nico Fuhrmann et al. · Human Molecular Genetics · 2011 · 38 citations

Life Sciences, Genetics, Neurology +17