Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Variant haploinsufficiency and phenotypic non-penetrance inPRPF31-associated retinitis pigmentosa

(2016) A.M. Rose et al.   CLINICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

(2016) Elvir Becirovic et al.   PLoS Genetics

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

(2015) Kim De Leeneer et al.   HUMAN MUTATION

Prevalence ofRhodopsinmutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

(2014) Patricia Fernandez-San Jose et al.   ACTA OPHTHALMOLOGICA

Gene discovery and prevalence in inherited retinal dystrophies

(2014) Christian P. Hamel   COMPTES RENDUS BIOLOGIES

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

(2014) Yan Xu et al.   HUMAN GENETICS

Genes and mutations causing retinitis pigmentosa

(2013) S P Daiger et al.   CLINICAL GENETICS

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inhibition of RNA Helicase Brr2 by the C-Terminal Tail of the Spliceosomal Protein Prp8

(2013) S. Mozaffari-Jovin et al.   SCIENCE

Structural Basis of Brr2-Prp8 Interactions and Implications for U5 snRNP Biogenesis and the Spliceosome Active Site

(2013) Thi Hoang Duong Nguyen et al.   STRUCTURE

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

(2012) Tiecheng Liu et al.   PLoS One

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

(2011) Isabelle Audo et al.   HUMAN MUTATION

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa

(2011) Paola Benaglio et al.   HUMAN MUTATION

The structural basis of agonist-induced activation in constitutively active rhodopsin

(2011) Jörg Standfuss et al.   NATURE

Brr2p RNA helicase with a split personality: insights into structure and function: Figure 1

(2010) Daniela Hahn et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

(2010) Isabelle Audo et al.   BMC Medical Genetics

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

(2010) Francesca I Arrigoni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Screening ofRhodopsinandPeripherin/RDSGenes in Mexican Families with Autosomal Dominant Retinitis Pigmentosa

(2009) Margarita Matias-Florentino et al.   CURRENT EYE RESEARCH

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

(2009) Esther Pomares et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Common Design Principles in the Spliceosomal RNA Helicase Brr2 and in the Hel308 DNA Helicase

(2009) Vladimir Pena et al.   MOLECULAR CELL

Structural evidence for consecutive Hel308-like modules in the spliceosomal ATPase Brr2

(2009) Lingdi Zhang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8

(2008) Corina Maeder et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY