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Author Details

Raymond T O'Keefe
University of Manchester
1992
57
21
PMIDPaper TitleJournal TitlePublished Year
37558808Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.Eur J Hum Genet2023
34338890New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Hum Genet2022
35781182Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.Reprod Biomed Online2022
36712349Eisosome disruption by noncoding RNA deletion increases protein secretion in yeast.PNAS Nexus2022
35871492Bi-allelic FRA10AC1 variants in a multisystem human syndrome.Brain2022
35065709MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.Am J Hum Genet2022
34713892Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.Clin Genet2022
33029936Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.Am J Med Genet A2021
33795683A KRAS-responsive long non-coding RNA controls microRNA processing.Nat Commun2021
33493158Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network.PLoS Genet2021
33584830The Role of the U5 snRNP in Genetic Disorders and Cancer.Front Genet2021
34497033Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency.Reprod Biomed Online2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34715011Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.Am J Hum Genet2021
33958779Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.Nat Genet2021
34060618The role of splicing factors in retinitis pigmentosa: links to cilia.Biochem Soc Trans2021
32359472Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.Am J Hum Genet2020
31827252A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.J Hum Genet2020
32735620Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.PLoS One2020
31304552Disease modeling of core pre-mRNA splicing factor haploinsufficiency.Hum Mol Genet2019
31441039A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.Clin Genet2019
31602609Advanced Methods for the Analysis of Altered Pre-mRNA Splicing in Yeast and Disease.Methods Mol Biol2019
29671881A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects.Clin Genet2018
29529031Large-scale profiling of noncoding RNA function in yeast.PLoS Genet2018
26970254Expanding the genotypic spectrum of Perrault syndrome.Clin Genet2017
28138155Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Nat Genet2017
28468764A resource for functional profiling of noncoding RNA in the yeast <i>Saccharomyces cerevisiae</i>.RNA2017
27571260Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.Nat Genet2016
27528754Non-coding RNAs and disease: the classical ncRNAs make a comeback.Biochem Soc Trans2016
25654271The NineTeen Complex (NTC) and NTC-associated proteins as targets for spliceosomal ATPase action during pre-mRNA splicing.RNA Biol2015
24848011Remodeling of U2-U6 snRNA helix I during pre-mRNA splicing by Prp16 and the NineTeen Complex protein Cwc2.Nucleic Acids Res2014
25434003Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.Am J Hum Genet2014
23857713The U5 snRNA internal loop 1 is a platform for Brr2, Snu114 and Prp8 protein binding during U5 snRNP assembly.J Cell Biochem2013
22215661Saccharomyces cerevisiae NineTeen complex (NTC)-associated factor Bud31/Ycr063w assembles on precatalytic spliceosomes and improves first and second step pre-mRNA splicing efficiency.J Biol Chem2012
23065567Splint ligation of RNA with T4 DNA ligase.Methods Mol Biol2012
22817757Non-coding RNAs in Saccharomyces cerevisiae: what is the function?Biochem Soc Trans2012
20659013The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing.Biochem Soc Trans2010
19447917Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8.RNA2009
19620389Analysis of synthetic lethality reveals genetic interactions between the GTPase Snu114p and snRNAs in the catalytic core of the Saccharomyces cerevisiae spliceosome.Genetics2009
19435883The RNA binding protein Cwc2 interacts directly with the U6 snRNA to link the nineteen complex to the spliceosome during pre-mRNA splicing.Nucleic Acids Res2009
18084028The U1, U2 and U5 snRNAs crosslink to the 5' exon during yeast pre-mRNA splicing.Nucleic Acids Res2008
18482006The role of Snu114p during pre-mRNA splicing.Biochem Soc Trans2008
17631273Analysis of pre-mRNA and pre-rRNA processing factor Snu13p structure and mutants.Biochem Biophys Res Commun2007
17597491A new series of yeast shuttle vectors for the recovery and identification of multiple plasmids from Saccharomyces cerevisiae.Yeast2007
16888626Mutation in the U2 snRNA influences exon interactions of U5 snRNA loop 1 during pre-mRNA splicing.EMBO J2006
14730029Analysis of Snu13p mutations reveals differential interactions with the U4 snRNA and U3 snoRNA.RNA2004
12881431The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decay.EMBO J2003
12490716Mutations in U5 snRNA loop 1 influence the splicing of different genes in vivo.Nucleic Acids Res2002
11453062ATP-dependent interaction of yeast U5 snRNA loop 1 with the 5' splice site.RNA2001
9769098Protein-RNA interactions in the U5 snRNP of Saccharomyces cerevisiae.RNA1998
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Collaborators

Huw B Thomas
University of Manchester
Co-authored papers 9
Daniela Delneri
Co-authored papers 6
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 4
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 4
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Jamie M Ellingford
University of Manchester
Co-authored papers 3
Ian Dix
Institute of Cell and Molecular Biology, University of Edinburgh
Co-authored papers 2
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 2
Adrian S Woolf
The University of Manchester
Co-authored papers 2
Elliott H Sherr
Co-authored papers 2
Sakkubai Naidu
Kennedy Krieger Institute, Johns Hopkins Medical Institutions
Co-authored papers 2
David J Burn
Population Health Sciences Institute, Newcastle University
Co-authored papers 2
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 2
Siddharth Banka
University of Manchester
Co-authored papers 2
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 2
Kyle Thompson
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 2
Philip Twiss
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Matthew Welland
Co-authored papers 1
Maureen Cleary
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 1
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 1
Gopinath M Subramanian
John Hunter Children's Hospital
Co-authored papers 1
Dragana Josifova
Guy's and St Thomas' Hospital
Co-authored papers 1
Douglass M Turnbull
Newcastle University
Co-authored papers 1
Valentina Cipriani
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Christopher Boustred
Co-authored papers 1
Charu Deshpande
Guy's Hospital
Co-authored papers 1
Bishoy Habib
Co-authored papers 1
Release 1.2