Christina Chakarova

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen et al. · Molecular Cell · 2001 · 329 citations · Full text

Chromatin, Transcriptional Regulation, Genetics +10

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa et al. · Nature Genetics · 2009 · 267 citations · Full text

Ocular Disease, Common Allele, Retina +7

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

Christina Chakarova · Human Molecular Genetics · 2002 · 236 citations

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Mai M. Abd El-Aziz, Isabel Barragán, C. O'Driscoll et al. · Nature Genetics · 2008 · 209 citations · Full text

Biology, Developmental Biology, Developmental Genetics +10

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso et al. · Nature Genetics · 2012 · 196 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5