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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Susanne Kohl

Molecular Genetics Laboratory

Institute for Ophthalmic Research

Centre for Ophthalmology

University of Tuebingen

Germany

[email]@uni-tuebingen.de

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Affiliations

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Germany. 2012
Molekulargenetisches Labor, Universitäts-Augenklinik Tübingen, Abt. Pathophysiologie des Sehens und Neuroophthalmologie, Germany. 2005

References

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Kohl, S., Coppieters, F., Meire, F., Schaich, S., Roosing, S., Brennenstuhl, C., Bolz, S., van Genderen, M.M., Riemslag, F.C., Lukowski, R., den Hollander, A.I., Cremers, F.P., De Baere, E., Hoyng, C.B., Wissinger, B. Am. J. Hum. Genet. (2012) [Pubmed]
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Kohl, S., Varsanyi, B., Antunes, G.A., Baumann, B., Hoyng, C.B., Jägle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andreasson, S., Weleber, R.G., Jacobson, S.G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M., Bitoun, P., Lev, D., Sieving, P.A., Munier, F.L., Zrenner, E., Sharpe, L.T., Cremers, F.P., Wissinger, B. Eur. J. Hum. Genet. (2005) [Pubmed]