| Dynamic organization of DNA replication in mammalian cell nuclei: spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences. RT O'Keefe, SC Henderson, DL Spector The Journal of cell biology 116 (5), 1095-1110, 1992 | 558 | 1992 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 368 | 2021 |
| Disruption of pre-mRNA splicing in vivo results in reorganization of splicing factors RT O'Keefe, A Mayeda, CL Sadowski, AR Krainer, DL Spector The Journal of cell biology 124 (3), 249-260, 1994 | 220 | 1994 |
| The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense‐mediated decay A Chester, A Somasekaram, M Tzimina, A Jarmuz, J Gisbourne, ... The EMBO journal, 2003 | 152 | 2003 |
| The invariant U5 snRNA loop 1 sequence is dispensable for the first catalytic step of pre-mRNA splicing in yeast R T O'Keefe, C Norman, AJ Newman Cell 86 (4), 679-689, 1996 | 149 | 1996 |
| Protein-RNA interactions in the U5 snRNP of Saccharomyces cerevisiae. I Dix, CS Russell, RT O'Keefe, AJ Newman, JD Beggs Rna 4 (10), 1239-1250, 1998 | 127 | 1998 |
| Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ... Nature genetics 48 (10), 1185-1192, 2016 | 122 | 2016 |
| The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing R Hogg, JC McGrail, RT O'Keefe Biochemical Society Transactions 38 (4), 1110-1115, 2010 | 122 | 2010 |
| A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations R Jayadev, MRPT Morais, JM Ellingford, S Srinivasan, RW Naylor, ... Science Advances 8 (20), eabn2265, 2022 | 86 | 2022 |
| Expanding the genotypic spectrum of Perrault syndrome LAM Demain, JE Urquhart, J O'Sullivan, SG Williams, SS Bhaskar, ... Clinical genetics 91 (2), 302-312, 2017 | 85 | 2017 |
| Non-coding RNAs and disease: the classical ncRNAs make a comeback RA de Almeida, MG Fraczek, S Parker, D Delneri, RT O'Keefe Biochemical Society Transactions 44 (4), 1073-1078, 2016 | 81 | 2016 |
| Functional analysis of the U5 snRNA loop 1 in the second catalytic step of yeast pre‐mRNA splicing RT O'Keefe, AJ Newman The EMBO journal, 1998 | 77 | 1998 |
| ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing R Burgess, RE MacLaren, AE Davidson, JE Urquhart, GE Holder, ... Journal of medical genetics 46 (9), 620-625, 2009 | 75 | 2009 |
| Dynamics of transcription and pre-mRNA splicing within the mammalian cell nucleus DL Spector, RT O'keefe, LF Jimenez-Garcia Cold Spring Harbor symposia on quantitative biology 58, 799-805, 1993 | 75 | 1993 |
| Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome D Wieczorek, WG Newman, T Wieland, T Berulava, M Kaffe, ... The American Journal of Human Genetics 95 (6), 698-707, 2014 | 65 | 2014 |
| Splint ligation of RNA with T4 DNA ligase CJ Kershaw, RT O’Keefe Recombinant and In Vitro RNA Synthesis: Methods and Protocols, 257-269, 2012 | 54 | 2012 |
| Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney JM Eales, X Jiang, X Xu, S Saluja, A Akbarov, E Cano-Gamez, ... Nature genetics 53 (5), 630-637, 2021 | 46 | 2021 |
| Large-scale profiling of noncoding RNA function in yeast S Parker, MG Fraczek, J Wu, S Shamsah, A Manousaki, K Dungrattanalert, ... PLoS genetics 14 (3), e1007253, 2018 | 43 | 2018 |
| The RNA binding protein Cwc2 interacts directly with the U6 snRNA to link the nineteen complex to the spliceosome during pre-mRNA splicing JC McGrail, A Krause, RT O’Keefe Nucleic acids research 37 (13), 4205-4217, 2009 | 43 | 2009 |
| Non-coding RNAs in Saccharomyces cerevisiae: what is the function? J Wu, D Delneri, RT O'Keefe Biochemical Society Transactions 40 (4), 907-911, 2012 | 38 | 2012 |
