Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes
Wei, Wei, Schon, Katherine R, Elgar, Greg, Orioli, Andrea, Tanguy, Melanie, Giess, Adam, Tischkowitz, Marc, Caulfield, Mark J, Chinnery, Patrick F
Published in Nature (London) (03.11.2022)
Published in Nature (London) (03.11.2022)
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Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue
Oakley, Julia, Hill, Martin, Giess, Adam, Tanguy, Mélanie, Elgar, Greg
Published in Journal of translational medicine (17.11.2023)
Published in Journal of translational medicine (17.11.2023)
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Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility
Basyuni, Shadi, Heskin, Laura, Degasperi, Andrea, Black, Daniella, Koh, Gene C C, Chmelova, Lucia, Rinaldi, Giuseppe, Bell, Steven, Grybowicz, Louise, Elgar, Greg, Memari, Yasin, Robbe, Pauline, Kingsbury, Zoya, Caldas, Carlos, Abraham, Jean, Schuh, Anna, Jones, Louise, Tischkowitz, Marc, Brown, Matthew A, Davies, Helen R, Nik-Zainal, Serena
Published in Nature communications (04.09.2024)
Published in Nature communications (04.09.2024)
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Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model
Moss, Chloe F, Dalla Rosa, Ilaria, Hunt, Lilian E, Yasukawa, Takehiro, Young, Robert, Jones, Aleck W E, Reddy, Kaalak, Desai, Radha, Virtue, Sam, Elgar, Greg, Voshol, Peter, Taylor, Martin S, Holt, Ian J, Reijns, Martin A M, Spinazzola, Antonella
Published in Nucleic acids research (15.12.2017)
Published in Nucleic acids research (15.12.2017)
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MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
Dalla Rosa, Ilaria, Cámara, Yolanda, Durigon, Romina, Moss, Chloe F, Vidoni, Sara, Akman, Gokhan, Hunt, Lilian, Johnson, Mark A, Grocott, Sarah, Wang, Liya, Thorburn, David R, Hirano, Michio, Poulton, Joanna, Taylor, Robert W, Elgar, Greg, Martí, Ramon, Voshol, Peter, Holt, Ian J, Spinazzola, Antonella
Published in PLoS genetics (01.01.2016)
Published in PLoS genetics (01.01.2016)
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A reporter assay in lamprey embryos reveals both functional conservation and elaboration of vertebrate enhancers
Parker, Hugo J, Sauka-Spengler, Tatjana, Bronner, Marianne, Elgar, Greg
Published in PloS one (09.01.2014)
Published in PloS one (09.01.2014)
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Highly conserved non-coding sequences are associated with vertebrate development
Woolfe, Adam, Goodson, Martin, Goode, Debbie K, Snell, Phil, McEwen, Gayle K, Vavouri, Tanya, Smith, Sarah F, North, Phil, Callaway, Heather, Kelly, Krys, Walter, Klaudia, Abnizova, Irina, Gilks, Walter, Edwards, Yvonne J K, Cooke, Julie E, Elgar, Greg
Published in PLoS biology (01.01.2005)
Published in PLoS biology (01.01.2005)
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A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark
Pei, Yang, Tanguy, Melanie, Giess, Adam, Dixit, Abhijit, Wilson, Louise C, Gibbons, Richard J, Twigg, Stephen R F, Elgar, Greg, Wilkie, Andrew O M
Published in Genes (01.07.2024)
Published in Genes (01.07.2024)
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Early evolution of conserved regulatory sequences associated with development in vertebrates
McEwen, Gayle K, Goode, Debbie K, Parker, Hugo J, Woolfe, Adam, Callaway, Heather, Elgar, Greg
Published in PLoS genetics (01.12.2009)
Published in PLoS genetics (01.12.2009)
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Cis‐regulatory control of human GLI2 expression in the developing neural tube and limb bud
Minhas, Rashid, Pauls, Stefan, Ali, Shahid, Doglio, Laura, Khan, Muhammad Ramzan, Elgar, Greg, Abbasi, Amir Ali
Published in Developmental dynamics (01.05.2015)
Published in Developmental dynamics (01.05.2015)
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Minor change, major difference: divergent functions of highly conserved cis-regulatory elements subsequent to whole genome duplication events
Goode, Debbie K, Callaway, Heather A, Cerda, Gustavo A, Lewis, Katharine E, Elgar, Greg
Published in Development (Cambridge) (01.03.2011)
Published in Development (Cambridge) (01.03.2011)
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Ancient Pbx-Hox signatures define hundreds of vertebrate developmental enhancers
Parker, Hugo J, Piccinelli, Paul, Sauka-Spengler, Tatjana, Bronner, Marianne, Elgar, Greg
Published in BMC genomics (30.12.2011)
Published in BMC genomics (30.12.2011)
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Parallel evolution of chordate cis-regulatory code for development
Doglio, Laura, Goode, Debbie K, Pelleri, Maria C, Pauls, Stefan, Frabetti, Flavia, Shimeld, Sebastian M, Vavouri, Tanya, Elgar, Greg
Published in PLoS genetics (01.11.2013)
Published in PLoS genetics (01.11.2013)
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Identification and functional characterization of novel transcriptional enhancers involved in regulating human GLI3 expression during early development
Anwar, Saneela, Minhas, Rashid, Ali, Shahid, Lambert, Nicholas, Kawakami, Yasuhiko, Elgar, Greg, Azam, Syed Sikandar, Abbasi, Amir Ali
Published in Development, growth & differentiation (01.10.2015)
Published in Development, growth & differentiation (01.10.2015)
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