Pesquisa | BVS IEC

1.

Diverse mutational landscapes in human lymphocytes.

Machado, Heather E; Mitchell, Emily; Øbro, Nina F; Kübler, Kirsten; Davies, Megan; Leongamornlert, Daniel; Cull, Alyssa; Maura, Francesco; Sanders, Mathijs A; Cagan, Alex T J; McDonald, Craig; Belmonte, Miriam; Shepherd, Mairi S; Vieira Braga, Felipe A; Osborne, Robert J; Mahbubani, Krishnaa; Martincorena, Iñigo; Laurenti, Elisa; Green, Anthony R; Getz, Gad; Polak, Paz; Saeb-Parsy, Kourosh; Hodson, Daniel J; Kent, David G; Campbell, Peter J.

Nature ; 608(7924): 724-732, 2022 08.

Artigo em Inglês | MEDLINE | ID: mdl-35948631

2.

Somatic mutation landscapes at single-molecule resolution.

Abascal, Federico; Harvey, Luke M R; Mitchell, Emily; Lawson, Andrew R J; Lensing, Stefanie V; Ellis, Peter; Russell, Andrew J C; Alcantara, Raul E; Baez-Ortega, Adrian; Wang, Yichen; Kwa, Eugene Jing; Lee-Six, Henry; Cagan, Alex; Coorens, Tim H H; Chapman, Michael Spencer; Olafsson, Sigurgeir; Leonard, Steven; Jones, David; Machado, Heather E; Davies, Megan; Øbro, Nina F; Mahubani, Krishnaa T; Allinson, Kieren; Gerstung, Moritz; Saeb-Parsy, Kourosh; Kent, David G; Laurenti, Elisa; Stratton, Michael R; Rahbari, Raheleh; Campbell, Peter J; Osborne, Robert J; Martincorena, Iñigo.

Nature ; 593(7859): 405-410, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-33911282

3.

The landscape of somatic mutation in normal colorectal epithelial cells.

Lee-Six, Henry; Olafsson, Sigurgeir; Ellis, Peter; Osborne, Robert J; Sanders, Mathijs A; Moore, Luiza; Georgakopoulos, Nikitas; Torrente, Franco; Noorani, Ayesha; Goddard, Martin; Robinson, Philip; Coorens, Tim H H; O'Neill, Laura; Alder, Christopher; Wang, Jingwei; Fitzgerald, Rebecca C; Zilbauer, Matthias; Coleman, Nicholas; Saeb-Parsy, Kourosh; Martincorena, Inigo; Campbell, Peter J; Stratton, Michael R.

Nature ; 574(7779): 532-537, 2019 10.

Artigo em Inglês | MEDLINE | ID: mdl-31645730

4.

Population dynamics of normal human blood inferred from somatic mutations.

Lee-Six, Henry; Øbro, Nina Friesgaard; Shepherd, Mairi S; Grossmann, Sebastian; Dawson, Kevin; Belmonte, Miriam; Osborne, Robert J; Huntly, Brian J P; Martincorena, Inigo; Anderson, Elizabeth; O'Neill, Laura; Stratton, Michael R; Laurenti, Elisa; Green, Anthony R; Kent, David G; Campbell, Peter J.

Nature ; 561(7724): 473-478, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-30185910

5.

Reflex: intramolecular barcoding of long-range PCR products for sequencing multiple pooled DNAs.

Casbon, James A; Slatter, Andrew F; Musgrave-Brown, Esther; Osborne, Robert J; Lichtenstein, Conrad P; Brenner, Sydney.

Nucleic Acids Res ; 41(10): e112, 2013 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-23580546

6.

Splicing biomarkers of disease severity in myotonic dystrophy.

Nakamori, Masayuki; Sobczak, Krzysztof; Puwanant, Araya; Welle, Steve; Eichinger, Katy; Pandya, Shree; Dekdebrun, Jeannne; Heatwole, Chad R; McDermott, Michael P; Chen, Tian; Cline, Melissa; Tawil, Rabi; Osborne, Robert J; Wheeler, Thurman M; Swanson, Maurice S; Moxley, Richard T; Thornton, Charles A.

Ann Neurol ; 74(6): 862-72, 2013 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-23929620

7.

A method for counting PCR template molecules with application to next-generation sequencing.

Casbon, James A; Osborne, Robert J; Brenner, Sydney; Lichtenstein, Conrad P.

Nucleic Acids Res ; 39(12): e81, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21490082

8.

Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE.

Gray, Eleanor R; Mordaka, Justyna M; Christoforou, Efthimia R; von Bargen, Kristine; Potts, Nicola D; Xyrafaki, Christina; Silva, Ana-Luisa; Stolarek-Januszkiewicz, Magdalena; Anton, Katarzyna; Powalowska, Paulina K; Andreazza, Simonetta; Tomassini, Alessandro; Palmer, Rebecca N; Cooke, Aishling; Osborne, Robert J; Balmforth, Barnaby W.

BMC Med Genomics ; 15(1): 215, 2022 10 12.

Artigo em Inglês | MEDLINE | ID: mdl-36224552

9.

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.

Osborne, Robert J; Lin, Xiaoyan; Welle, Stephen; Sobczak, Krzysztof; O'Rourke, Jason R; Swanson, Maurice S; Thornton, Charles A.

Hum Mol Genet ; 18(8): 1471-81, 2009 Apr 15.

Artigo em Inglês | MEDLINE | ID: mdl-19223393

10.

Parent-of-origin effects in SOX2 anophthalmia syndrome.

Osborne, Robert J; Kurinczuk, Jennifer J; Ragge, Nicola K.

Mol Vis ; 17: 3097-106, 2011.

Artigo em Inglês | MEDLINE | ID: mdl-22171155

11.

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

Wyatt, Alexander W; Osborne, Robert J; Stewart, Helen; Ragge, Nicola K.

Hum Mutat ; 31(7): 781-7, 2010 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-20506283

12.

Cell-free cloning of highly expanded CTG repeats by amplification of dimerized expanded repeats.

Osborne, Robert J; Thornton, Charles A.

Nucleic Acids Res ; 36(4): e24, 2008 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-18263610

13.

Timing the initiation of multiple myeloma.

Rustad, Even H; Yellapantula, Venkata; Leongamornlert, Daniel; Bolli, Niccolò; Ledergor, Guy; Nadeu, Ferran; Angelopoulos, Nicos; Dawson, Kevin J; Mitchell, Thomas J; Osborne, Robert J; Ziccheddu, Bachisio; Carniti, Cristiana; Montefusco, Vittorio; Corradini, Paolo; Anderson, Kenneth C; Moreau, Philippe; Papaemmanuil, Elli; Alexandrov, Ludmil B; Puente, Xose S; Campo, Elias; Siebert, Reiner; Avet-Loiseau, Herve; Landgren, Ola; Munshi, Nikhil; Campbell, Peter J; Maura, Francesco.

Nat Commun ; 11(1): 1917, 2020 04 21.

Artigo em Inglês | MEDLINE | ID: mdl-32317634

14.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri, Sibel Ugur; Osborne, Robert J; Farrall, Martin; Wyatt, Alexander William; Mirza, Ghazala; Nürnberg, Gudrun; Kluck, Christian; Herbert, Helen; Martin, Angela; Hussain, Muhammad Sajid; Collin, J Richard O; Lathrop, Mark; Nürnberg, Peter; Ragoussis, Jiannis; Ragge, Nicola K.

Hum Mutat ; 30(10): 1378-86, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19708017

15.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri, Gaia; Osborne, Robert J; Wyatt, Alexander W; Gerrelli, Dianne; Gribble, Susan; Stewart, Helen; Fryer, Alan; Bunyan, David J; Prescott, Katrina; Collin, J Richard O; Fitzgerald, Tomas; Robinson, David; Carter, Nigel P; Wilson, Stephen W; Ragge, Nicola K.

Hum Genet ; 126(6): 791-803, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19685247

16.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Wyatt, Alexander; Bakrania, Preeti; Bunyan, David J; Osborne, Robert J; Crolla, John A; Salt, Alison; Ayuso, Carmen; Newbury-Ecob, Ruth; Abou-Rayyah, Y; Collin, J Richard O; Robinson, David; Ragge, Nicola.

Hum Mutat ; 29(11): E278-83, 2008 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-18781617

17.

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

Du, Hongqing; Cline, Melissa S; Osborne, Robert J; Tuttle, Daniel L; Clark, Tyson A; Donohue, John Paul; Hall, Megan P; Shiue, Lily; Swanson, Maurice S; Thornton, Charles A; Ares, Manuel.

Nat Struct Mol Biol ; 17(2): 187-93, 2010 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-20098426

18.

Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA.

Wheeler, Thurman M; Sobczak, Krzysztof; Lueck, John D; Osborne, Robert J; Lin, Xiaoyan; Dirksen, Robert T; Thornton, Charles A.

Science ; 325(5938): 336-9, 2009 Jul 17.

Artigo em Inglês | MEDLINE | ID: mdl-19608921

19.

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.

Lueck, John D; Lungu, Codrin; Mankodi, Ami; Osborne, Robert J; Welle, Stephen L; Dirksen, Robert T; Thornton, Charles A.

Am J Physiol Cell Physiol ; 292(4): C1291-7, 2007 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-17135300

20.

RNA-dominant diseases.