Simone Schaich

发表

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

F. Riemslag, A. D. den Hollander, S. Bolz, 2012, American journal of human genetics.

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene

B. Wissinger, Simone Schaich, S. Schimpf, 2006, Human Genetics.

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

V. Kitiratschky, B. Wissinger, S. Kohl, 2012, Advances in experimental medicine and biology.

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

A. Cideciyan, S. Jacobson, E. Zrenner, 2008, European Journal of Human Genetics.

Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16

B. Barbiroli, P. Barboni, R. Lodi, 2007 .

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

B. Wissinger, Simone Schaich, S. Schimpf, 2008, Human mutation.

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

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

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

P. Barboni, R. Lodi, R. Youle, 2011, Human molecular genetics.

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

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.