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R. O'Keefe · SciRah

Researcher profile · Semantic Scholar

R. O'Keefe

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R. O'Keefe — researcher profile on SciRah

h-index: 25
Works: 66
Citations: 2,135

Most-cited papers

Dynamic organization of DNA replication in mammalian cell nuclei: spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences
R. O'Keefe, Scott C. Henderson, D. Spector
1992Journal of Cell Biology495 citations Open access
Semantic Scholar
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
E. Jenkinson, M. Rodero, Paul R. Kasher, Carolina Uggenti +62 more
2016Nature Genetics134 citations Open access
Semantic Scholar
The invariant U5 snRNA loop 1 sequence is dispensable for the first catalytic step of pre-mRNA splicing in yeast.
R. O'Keefe, C. Norman, A. J. Newman
1996Cell129 citations Open access
Semantic Scholar
The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense‐mediated decay
A. Chester, A. Somasekaram, M. Tzimina, A. Jarmuz +4 more
2003EMBO Journal128 citations Open access
Semantic Scholar
The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing
R. Hogg, Joanne C. McGrail, R. O'Keefe
2010Biochemical Society Transactions106 citations Open access
Semantic Scholar
Non-coding RNAs and disease: the classical ncRNAs make a comeback
R. A. de Almeida, M. Fraczek, Steven Parker, D. Delneri +1 more
2016Biochemical Society Transactions73 citations Open access
Semantic Scholar
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
D. Wieczorek, W. Newman, T. Wieland, Tea Berulava +38 more
2014American Journal of Human Genetics67 citations Open access
Semantic Scholar
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney
J. Eales, Xiao Jiang, Xiao-Guang Xu, S. Saluja +45 more
2021Nature Genetics61 citations Open access
Semantic Scholar
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie F. Rowlands, Huw B. Thomas, J. Lord, H. Wai +76 more
2020Scientific Reports55 citations Open access
Semantic Scholar
The Role of the U5 snRNP in Genetic Disorders and Cancer
Katherine A. Wood, Megan A. Eadsforth, W. Newman, R. O'Keefe
2021Frontiers in Genetics46 citations Open access
Semantic Scholar
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
R. Faridi, Alessandro Rea, C. Fenollar-Ferrer, R. O'Keefe +8 more
2021Human Genetics46 citations Open access
Semantic Scholar
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
I. Hochberg, L. Demain, J. Richer, K. Thompson +36 more
2021American Journal of Human Genetics45 citations Open access
Semantic Scholar
Splint ligation of RNA with T4 DNA ligase
Christopher J. Kershaw, R. O'Keefe
2012Methods in molecular biology45 citations Open access
Semantic Scholar
The RNA binding protein Cwc2 interacts directly with the U6 snRNA to link the nineteen complex to the spliceosome during pre-mRNA splicing
Joanne C. McGrail, André Krause, R. O'Keefe
2009Nucleic Acids Research44 citations Open access
Semantic Scholar
A KRAS-responsive long non-coding RNA controls microRNA processing
Lei Shi, Peter Magee, M. Fassan, Sudhakar Sahoo +14 more
2021Nature Communications41 citations Open access
Semantic Scholar
Large-scale profiling of noncoding RNA function in yeast
Steven Parker, M. Fraczek, Jian Wu, Sara Shamsah +9 more
2018PLoS Genetics40 citations Open access
Semantic Scholar
Non-coding RNAs in Saccharomyces cerevisiae: What is the function?
Jian Wu, D. Delneri, R. O'Keefe
2012Biochemical Society Transactions31 citations Open access
Semantic Scholar
Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network
L. N. Balarezo-Cisneros, Steven Parker, M. Fraczek, S. Timouma +4 more
2021PLoS Genetics29 citations Open access
Semantic Scholar
Analysis of Snu13p mutations reveals differential interactions with the U4 snRNA and U3 snoRNA.
H. C. Dobbyn, R. O'Keefe
2004RNA: A publication of the RNA Society29 citations Open access
Semantic Scholar
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Y. Crow, Heather Marshall, G. Rice, L. Seabra +64 more
2020American Journal of Medical Genetics. Part A28 citations Open access
Semantic Scholar
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
Andrew P. Badrock, Carolina Uggenti, L. Wacheul, Siobhan Crilly +6 more
2020American Journal of Human Genetics28 citations Open access
Semantic Scholar
Disease modeling of core pre-mRNA splicing factor haploinsufficiency
Katherine A. Wood, Charlie F. Rowlands, W. M. S. Qureshi, Huw B. Thomas +6 more
2019Human Molecular Genetics27 citations Open access
Semantic Scholar
The role of Snu114p during pre-mRNA splicing.
L. Frazer, Verity Nancollis, R. O'Keefe
2008Biochemical Society Transactions27 citations
Semantic Scholar
The U1, U2 and U5 snRNAs crosslink to the 5′ exon during yeast pre-mRNA splicing
Joanne C. McGrail, R. O'Keefe
2007Nucleic Acids Research26 citations Open access
Semantic Scholar
Mutation in the U2 snRNA influences exon interactions of U5 snRNA loop 1 during pre‐mRNA splicing
Joanne C. McGrail, Elaine M. Tatum, R. O'Keefe
2006EMBO Journal26 citations Open access
Semantic Scholar
A new series of yeast shuttle vectors for the recovery and identification of multiple plasmids from Saccharomyces cerevisiae
L. Frazer, R. O'Keefe
2007Yeast25 citations
Semantic Scholar
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
Katherine A. Wood, Charlie F. Rowlands, Huw B. Thomas, Steven Woods +5 more
2020bioRxiv22 citations Open access
Semantic Scholar
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Charlie F. Rowlands, Algy Taylor, G. Rice, N. Whiffin +9 more
2022American Journal of Human Genetics20 citations Open access
Semantic Scholar
Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
J. Ellingford, Huw B. Thomas, Charlie F. Rowlands, G. Arno +15 more
2019bioRxiv20 citations Open access
Semantic Scholar
The NineTeen Complex (NTC) and NTC-associated proteins as targets for spliceosomal ATPase action during pre-mRNA splicing
R. A. de Almeida, R. O'Keefe
2015RNA Biology19 citations Open access
Semantic Scholar
Mutations in U5 snRNA loop 1 influence the splicing of different genes in vivo.
R. O'Keefe
2002Nucleic Acids Research19 citations Open access
Semantic Scholar
A resource for functional profiling of noncoding RNA in the yeast Saccharomyces cerevisiae
Steven Parker, M. Fraczek, Jian Wu, Sara Shamsah +7 more
2017RNA: A publication of the RNA Society18 citations Open access
Semantic Scholar
Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8.
Christopher J. Kershaw, J. Barrass, J. Beggs, R. O'Keefe
2009RNA: A publication of the RNA Society18 citations Open access
Semantic Scholar
Remodeling of U2-U6 snRNA helix I during pre-mRNA splicing by Prp16 and the NineTeen Complex protein Cwc2
R. Hogg, R. A. de Almeida, J. P. Ruckshanthi, R. O'Keefe
2014Nucleic Acids Research17 citations Open access
Semantic Scholar
Analysis of Synthetic Lethality Reveals Genetic Interactions Between the GTPase Snu114p and snRNAs in the Catalytic Core of the Saccharomyces cerevisiae Spliceosome
L. Frazer, S. Lovell, R. O'Keefe
2009Genetics16 citations Open access
Semantic Scholar
Saccharomyces cerevisiae NineTeen Complex (NTC)-associated Factor Bud31/Ycr063w Assembles on Precatalytic Spliceosomes and Improves First and Second Step Pre-mRNA Splicing Efficiency*
Debjani Saha, Piyush Khandelia, R. O'Keefe, U. Vijayraghavan
2012Journal of Biological Chemistry15 citations Open access
Semantic Scholar
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
L. Demain, E. Gerkes, Richard J. H. Smith, L. Molina-Ramírez +2 more
2019Journal of Human Genetics13 citations Open access
Semantic Scholar
The U5 snRNA Internal Loop 1 Is a Platform for Brr2, Snu114 and Prp8 Protein Binding During U5 snRNP Assembly
Verity Nancollis, Jayalath P. D. Ruckshanthi, L. Frazer, R. O'Keefe
2013Journal of Cellular Biochemistry13 citations Open access
Semantic Scholar
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease
G. Beaman, G. Galatà, K. W. Teik, J. Urquhart +9 more
2019Clinical Genetics11 citations Open access
Semantic Scholar
Analysis of pre-mRNA and pre-rRNA processing factor Snu13p structure and mutants.
H. C. Dobbyn, P. McEwan, André Krause, L. Novak-Frazer +2 more
2007Biochemical and Biophysical Research Communications - BBRC11 citations
Semantic Scholar
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.
L. Demain, Eline Boetje, Jonathan J Edgerley, E. Miles +6 more
2021Reproductive Biomedicine Online10 citations Open access
Semantic Scholar
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Katherine A. Wood, J. Ellingford, Huw B. Thomas, S. Douzgou +5 more
2021Clinical Genetics9 citations Open access
Semantic Scholar
A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency
I. Hochberg, L. Demain, J. Urquhart, A. Amberger +21 more
2017bioRxiv9 citations Open access
Semantic Scholar
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Thomas B. Smith, Alessandro Rea, Huw B. Thomas, K. Thompson +15 more
2023European Journal of Human Genetics7 citations Open access
Semantic Scholar
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
S. Banka, S. Shalev, Soo‐Mi Park, Katherine A. Wood +8 more
2022Brain : a journal of neurology6 citations Open access
Semantic Scholar
Functional analysis of the U 5 snRNA loop 1 in the second catalytic step of yeast pre-mRNA splicing
R. O'Keefe, A. J. Newman
20136 citations
Semantic Scholar
The role of splicing factors in retinitis pigmentosa: links to cilia.
Dale W Maxwell, R. O'Keefe, Sudipto Roy, Kathryn E. Hentges
2021Biochemical Society Transactions5 citations
Semantic Scholar
MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease
Charlie F. Rowlands, Algy Taylor, G. Rice, N. Whiffin +9 more
2021medRxiv5 citations Open access
Semantic Scholar
Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.
L. Demain, K. Metcalfe, Eline Boetje, P. Clayton +4 more
2022Reproductive Biomedicine Online4 citations
Semantic Scholar
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy
Katherine A. Wood, J. Ellingford, J. Eden, Huw B. Thomas +3 more
20214 citations Open access
Semantic Scholar

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