R. Vervoort

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

R. Vervoort, Alan Lennon, Alan C. Bird et al. · Nature Genetics · 2000 · 437 citations

Somatic Variant, Mendelian Disorder, Genetic Disorder +9

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova et al. · The American Journal of Human Genetics · 2002 · 245 citations · Full text

North American Cohort, Mendelian Disorder, Genetic Disorder +10

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

Xinhua Shu, Andrew M. Fry, B. Tulloch et al. · Human Molecular Genetics · 2005 · 111 citations · Full text

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene

R. Vervoort, R Gitzelmann, Willy Lissens et al. · Human Genetics · 1998 · 70 citations

Genetics, Intron 8, Molecular Biology +7

Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

Alan J. Mears, Suja Hiriyanna, R. Vervoort et al. · The American Journal of Human Genetics · 2000 · 66 citations · Full text

Medicine, Genetics, De Novo Insertion +12