F. P. M. Cremers

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

F. P. M. Cremers · Human Molecular Genetics · 1998 · 554 citations

Life Sciences, Genetics, Molecular Genetics +17

RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

Thomas Rosenberg, Robert Schultz‐Heienbrok, Steffen Lenzner et al. · Human Molecular Genetics · 1999 · 146 citations

Medicine, Genetics, Molecular Genetics +12

Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease

S. Gerber, Jean‐Michel Rozet, T.J.R. van de Pol et al. · Genomics · 1998 · 78 citations

Medicine, Genetics, Molecular Genetics +8

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Arjan Pm de Brouwer, Ronald J. E. Pennings, Marjolijn Roeters et al. · Human Genetics · 2003 · 47 citations

Medicine, Genetics, Molecular Genetics +14

Genetic fine mapping of the gene for recessive Stargardt disease

Carel B. Hoyng, Francis A.M. Poppelaars, T.J.R. van de Pol et al. · Human Genetics · 1996 · 31 citations

Life Sciences, Genetics, Molecular Genetics +13