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Mutational signature in colorectal cancer caused by genotoxic pks + E. coli
Mutational signature in colorectal cancer caused by genotoxic pks + E. coli
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Mutational signature in colorectal cancer caused by genotoxic pks + E. coli

Pleguezuelos-Manzano, Cayetano ; Puschhof, Jens ; Rosendahl Huber, Axel ; van Hoeck, Arne ; Wood, Henry M ; Nomburg, Jason ; Gurjao, Carino ; Manders, Freek ; Dalmasso, Guillaume ; Stege, Paul B ; Paganelli, Fernanda L ; Geurts, Maarten H ; Beumer, Joep ; Mizutani, Tomohiro ; Miao, Yi ; van der Linden, Reinier ; van der Elst, Stefan ; Garcia, K Christopher ; Top, Janetta ; Willems, Rob J L ; Giannakis, Marios ; Bonnet, Richard ; Quirke, Phil ; Meyerson, Matthew ; Cuppen, Edwin ; van Boxtel, Ruben ; Clevers, Hans

Nature (London), 2020-04, Vol.580 (7802), p.269-273 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population
Substitution mutational signatures in whole-genome-sequenced cancers in the UK population
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Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

Degasperi, Andrea ; Zou, Xueqing ; Amarante, Tauanne Dias ; Martinez-Martinez, Andrea ; Koh, Gene Ching Chiek ; Dias, João M L ; Heskin, Laura ; Chmelova, Lucia ; Rinaldi, Giuseppe ; Wang, Valerie Ya Wen ; Nanda, Arjun S ; Bernstein, Aaron ; Momen, Sophie E ; Young, Jamie ; Perez-Gil, Daniel ; Memari, Yasin ; Badja, Cherif ; Shooter, Scott ; Czarnecki, Jan ; Brown, Matthew A ; Davies, Helen R ; Nik-Zainal, Serena

Science (American Association for the Advancement of Science), 2022-04, Vol.376 (6591) [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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3
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei, Wei ; Pagnamenta, Alistair T ; Gleadall, Nicholas ; Sanchis-Juan, Alba ; Stephens, Jonathan ; Broxholme, John ; Tuna, Salih ; Odhams, Christopher A ; Fratter, Carl ; Turro, Ernest ; Caulfield, Mark J ; Taylor, Jenny C ; Rahman, Shamima ; Chinnery, Patrick F

Nature communications, 2020-04, Vol.11 (1), p.1740-1740, Article 1740 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
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Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

Robbe, Pauline ; Ridout, Kate E ; Vavoulis, Dimitrios V ; Dréau, Helene ; Kinnersley, Ben ; Denny, Nicholas ; Chubb, Daniel ; Appleby, Niamh ; Cutts, Anthony ; Cornish, Alex J ; Lopez-Pascua, Laura ; Clifford, Ruth ; Burns, Adam ; Stamatopoulos, Basile ; Cabes, Maite ; Alsolami, Reem ; Antoniou, Pavlos ; Oates, Melanie ; Cavalieri, Doriane ; Gibson, Jane ; Prabhu, Anika V ; Schwessinger, Ron ; Jennings, Daisy ; James, Terena ; Maheswari, Uma ; Duran-Ferrer, Martí ; Carninci, Piero ; Knight, Samantha J L ; Månsson, Robert ; Hughes, Jim ; Davies, James ; Ross, Mark ; Bentley, David ; Strefford, Jonathan C ; Devereux, Stephen ; Pettitt, Andrew R ; Hillmen, Peter ; Caulfield, Mark J ; Houlston, Richard S ; Martín-Subero, José I ; Schuh, Anna

Nature genetics, 2022-11, Vol.54 (11), p.1675-1689 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Dominik, Natalia ; Magri, Stefania ; Currò, Riccardo ; Abati, Elena ; Facchini, Stefano ; Corbetta, Marinella ; Macpherson, Hannah ; Di Bella, Daniela ; Sarto, Elisa ; Stevanovski, Igor ; Chintalaphani, Sanjog R ; Akcimen, Fulya ; Manini, Arianna ; Vegezzi, Elisa ; Quartesan, Ilaria ; Montgomery, Kylie-Ann ; Pirota, Valentina ; Crespan, Emmanuele ; Perini, Cecilia ; Grupelli, Glenda Paola ; Tomaselli, Pedro J ; Marques, Wilson ; Shaw, Joseph ; Polke, James ; Salsano, Ettore ; Fenu, Silvia ; Pareyson, Davide ; Pisciotta, Chiara ; Tofaris, George K ; Nemeth, Andrea H ; Ealing, John ; Radunovic, Aleksandar ; Kearney, Seamus ; Kumar, Kishore R ; Vucic, Steve ; Kennerson, Marina ; Reilly, Mary M ; Houlden, Henry ; Deveson, Ira ; Tucci, Arianna ; Taroni, Franco ; Cortese, Andrea

Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5060-5069 [Periódico revisado por pares]

England

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6
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Vig, Anjali ; Poulter, James A ; Ottaviani, Daniele ; Tavares, Erika ; Toropova, Katerina ; Tracewska, Anna Maria ; Mollica, Antonio ; Kang, Jasmine ; Kehelwathugoda, Oshini ; Paton, Tara ; Maynes, Jason T ; Wheway, Gabrielle ; Arno, Gavin ; Khan, Kamron N ; McKibbin, Martin ; Toomes, Carmel ; Ali, Manir ; Di Scipio, Matteo ; Li, Shuning ; Ellingford, Jamie ; Black, Graeme ; Webster, Andrew ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Płoski, Rafał ; Vincent, Ajoy ; Cheetham, Michael E ; Inglehearn, Chris F ; Roberts, Anthony ; Heon, Elise

Genetics in medicine, 2020-12, Vol.22 (12), p.2041-2051 [Periódico revisado por pares]

United States: Elsevier Limited

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7
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

Trotman, Jamie ; Armstrong, Ruth ; Firth, Helen ; Trayers, Claire ; Watkins, James ; Allinson, Kieren ; Jacques, Thomas S ; Nicholson, James C ; Burke, G A Amos ; Behjati, Sam ; Murray, Matthew J ; Hook, Catherine E ; Tarpey, Patrick

British journal of cancer, 2022-07, Vol.127 (1), p.137-144 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy
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Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy

Bacq, Alexandre ; Roussel, Delphine ; Bonduelle, Thomas ; Zagaglia, Sara ; Maletic, Marina ; Ribierre, Théo ; Adle-Biassette, Homa ; Marchal, Cécile ; Jennesson, Mélanie ; An, Isabelle ; Picard, Fabienne ; Navarro, Vincent ; Sisodiya, Sanjay M ; Baulac, Stéphanie

Annals of neurology, 2022-01, Vol.91 (1), p.101-116 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

Best, Sunayna ; Yu, Jing ; Lord, Jenny ; Roche, Matthew ; Watson, Christopher Mark ; Bevers, Roel P J ; Stuckey, Alex ; Madhusudhan, Savita ; Jewell, Rosalyn ; Sisodiya, Sanjay M ; Lin, Siying ; Turner, Stephen ; Robinson, Hannah ; Leslie, Joseph S ; Baple, Emma ; Toomes, Carmel ; Inglehearn, Chris ; Wheway, Gabrielle ; Johnson, Colin A ; Ambrose, JC ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, C R ; Brittain, H ; Brown, MA ; Caulfield, MJ ; Chan, GC ; Fowler, T ; Giess, A ; Hamblin, A ; Henderson, S ; Hubbard, TJP ; Jackson, R ; Jones, LJ ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, SEA ; Leong, IUS ; Lopez, FJ ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, AC ; O‘Donovan, P ; Odhams, CA ; Patch, C ; Perez-Gil, D ; Pereira, MB ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, RH ; Siddiq, A ; Sieghart, A ; Smith, SC ; Sosinsky, A ; Stuckey, A ; Tanguy, M ; Taylor Tavares, AL ; Thomas, ERA ; Thompson, SR ; Tucci, A ; Welland, MJ ; Williams, E ; Witkowska, K ; Wood, SM

Journal of medical genetics, 2022-12, Vol.59 (12), p.1151-1164 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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10
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Pagnamenta, Alistair T ; Yu, Jing ; Evans, Julie ; Twiss, Philip ; Offiah, Amaka C ; Wafik, Mohamed ; Mehta, Sarju G ; Javaid, Mohammed K ; Smithson, Sarah F ; Taylor, Jenny C ; Ambrose, J C ; Arumugam, P ; Bevers, R ; Bleda, M ; Boardman-Pretty, F ; Boustred, C R ; Brittain, H ; Caulfield, M J ; Chan, G C ; Elgar, G ; Fowler, T ; Giess, A ; Hamblin, A ; Henderson, S ; Hubbard, T J P ; Jackson, R ; Jones, L J ; Kasperaviciute, D ; Kayikci, M ; Kousathanas, A ; Lahnstein, L ; Leigh, S E A ; Leong, I U S ; Lopez, J F ; Maleady-Crowe, F ; McEntagart, M ; Minneci, F ; Moutsianas, L ; Mueller, M ; Murugaesu, N ; Need, A C ; O’Donovan, P ; Odhams, C A ; Patch, C ; Pereira, M B ; Perez-Gil, D ; Pullinger, J ; Rahim, T ; Rendon, A ; Rogers, T ; Savage, K ; Sawant, K ; Scott, R H ; Siddiq, A ; Sieghart, A ; Smith, S C ; Sosinsky, A ; Stuckey, Alexander ; Tanguy, M ; Taylor-Tavares, A L ; Thomas, E R A ; Thompson, S R ; Tucci, A ; Welland, M J ; Williams, E ; Witkowska, K ; Wood, S M ; Balasubramanian, M ; Bubbear, J ; Burren, C ; Calder, A ; Fairhurst, J ; Gevers, E ; Hunt, D ; Irving, M ; Javaid, MK ; Mohsin, Z ; Offiah, A C ; Pagnamenta, AT ; Sabir, A ; Shears, D ; Smithson, S F ; Suri, M ; Taylor, JC ; Wilkie, A ; Wilson, L

Journal of medical genetics, 2023-05, Vol.60 (5), p.505-510 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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