Helene Achatz

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Alison J. Coffey, Robert A. Brooksbank, Oliver Brandau et al. · Nature Genetics · 1998 · 754 citations

Host Response, Sh2-domain Encoding Gene, Molecular Virology +8

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

A Meindl, Katherine L. Dry, Karin A. Herrmann et al. · Nature Genetics · 1996 · 479 citations

Exchange Factor, Rcc1 Guanine, Natural Sciences +11

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

Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins

Wolfgang Berger, Thomas Meitinger, Dorien van de Pol et al. · Nature Genetics · 1992 · 169 citations

Disease Mechanism, Genetics, Pathogenesis +10

X-linked Retinitis Pigmentosa:<i>RPGR</i>Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15

Ingrid Bader, Oliver Brandau, Helene Achatz et al. · Investigative Ophthalmology & Visual Science · 2003 · 116 citations