Sten Andréasson

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 679 citations

Ocular Disease, Ophthalmology, Genetics +2

CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Bernd Wissinger, Daphne Gamer, Herbert Jägle et al. · The American Journal of Human Genetics · 2001 · 321 citations · Full text

Photoreceptor Cell, Ophthalmology, Genetic Disorder +5

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Thaddeus P. Dryja, Scott M. Adams, Jonna Grimsby et al. · The American Journal of Human Genetics · 2001 · 283 citations · Full text

Allelic Variant, Mendelian Disorder, Genetic Disorder +4

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Carsten M. Pusch, Christina Zeitz, Oliver Brandau et al. · Nature Genetics · 2000 · 259 citations

Developmental Anomaly, Mendelian Disorder, Ophthalmology +9

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Susanne Kohl, Balázs Varsányi, Gesine Abadin Antunes et al. · European Journal of Human Genetics · 2004 · 244 citations · Full text

Autosomal Recessive Achromatopsia, Mendelian Disorder, Genetic Disorder +7