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Refinado por: assunto: Mutation remover
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1
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
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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4
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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5
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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6
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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7
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Chrystal, Paul W ; Lambacher, Nils J ; Doucette, Lance P ; Bellingham, James ; Schiff, Elena R ; Noel, Nicole C L ; Li, Chunmei ; Tsiropoulou, Sofia ; Casey, Geoffrey A ; Zhai, Yi ; Nadolski, Nathan J ; Majumder, Mohammed H ; Tagoe, Julia ; D'Esposito, Fabiana ; Cordeiro, Maria Francesca ; Downes, Susan ; Clayton-Smith, Jill ; Ellingford, Jamie ; Mahroo, Omar A ; Hocking, Jennifer C ; Cheetham, Michael E ; Webster, Andrew R ; Jansen, Gert ; Blacque, Oliver E ; Allison, W Ted ; Au, Ping Yee Billie ; MacDonald, Ian M ; Arno, Gavin ; Leroux, Michel R

Nature communications, 2022-11, Vol.13 (1), p.6595-6595, Article 6595 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

Moore, A Rachel ; Yu, Jing ; Pei, Yang ; Cheng, Emily W Y ; Taylor Tavares, Ana Lisa ; Walker, Woolf T ; Thomas, N Simon ; Kamath, Arveen ; Ibitoye, Rita ; Josifova, Dragana ; Wilsdon, Anna ; Ross, Alison ; Calder, Alistair D ; Offiah, Amaka C ; Wilkie, Andrew O M ; Taylor, Jenny C ; Pagnamenta, Alistair T

Journal of medical genetics, 2023-12, Vol.60 (12), p.1235-1244 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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9
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Tucci, Arianna ; Cipriani, Valentina ; Demidov, German ; Rocca, Clarissa ; Senderek, Jan ; Butryn, Michaela ; Lam, Tanya ; Cali, Elisa ; Vestito, Letizia ; Maroofian, Reza ; Deininger, Natalie ; Rautenberg, Maren ; Admard, Jakob ; Bartels, Claudius ; Horvath, Rita ; Chinnery, Patrick F. ; Tiet, May Yung ; Hewamadduma, Channa ; Tofaris, George K. ; Ambrose, J.C. ; Arumugam, P. ; Baple, E.L. ; Bleda, M. ; Boardman-Pretty, F. ; Boissiere, J.M. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Craig, C.E.H. ; Daugherty, L.C. ; Devereau, A. ; Elgar, G. ; Foulger, R.E. ; Fowler, T. ; Furió-Tarí, P. ; Hackett, J.M. ; Halai, D. ; Hamblin, A. ; Henderson, S. ; Holman, J.E. ; Ibáñez, K. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Lahnstein, L. ; Lawson, K. ; Leigh, S.E.A. ; Leong, I.U.S. ; Maleady-Crowe, F. ; Mason, J. ; McDonagh, E.M. ; Moutsianas, L. ; Mueller, M. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pullinger, J. ; Rahim, T. ; Riesgo-Ferreiro, P. ; Rogers, T. ; Ryten, M. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K.R. ; Spooner, W. ; Stevens, H.E. ; Stuckey, A. ; Sultana, R. ; Thomas, E.R.A. ; Tucci, A. ; Watters, S.A. ; Welland, M.J. ; Williams, E. ; Zarowiecki, M. ; Wood, Nicholas W. ; Hayer, Stefanie N. ; Bender, Friedemann ; Menden, Benita ; Cordts, Isabell ; Klein, Katrin ; Krauss, Joachim K. ; Blahak, Christian ; Strom, Tim M. ; Sturm, Marc ; van de Warrenburg, Bart ; Lerche, Holger ; Maček, Boris ; Ossowski, Stephan ; Timmann, Dagmar ; Wolf, Marc E. ; Smedley, Damian ; Riess, Olaf ; Schöls, Ludger ; Houlden, Henry ; Haack, Tobias B. ; Hengel, Holger

Genetics in medicine, 2022-10, Vol.24 (10), p.2079-2090 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa ; Zhelcheska, Kristina ; Cipriani, Valentina ; Galanaki, Evangelia ; Maroofian, Reza ; Efthymiou, Stephanie ; Murphy, David ; Banka, Siddharth ; Clayton-Smith, Jill ; Redman, Melody ; Bassetti, Jennifer A. ; Nizon, Mathilde ; Jamra, Rami Abu ; Heruth, Marion ; Krey, Ilona ; Gburek-Augustat, Janina ; Wieczorek, Dagmar ; Mcentagart, Meriel ; Goldenberg, Alice ; Guyant-Marechal, Lucie ; Garcia-Moreno, Hector ; Giunti, Paola ; Chabrol, Brigitte ; Bacrot, Severine ; Buissonnière, Roger ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Melegh, Béla ; Szabó, András ; Sümegi, Katalin ; Cossée, Mireille ; Ziff, Monica ; Butterfield, Russell ; Hunt, David ; Hanna, Michael ; Koenig, Michel ; Vandrovcova, Jana ; Houlden, Henry ; Arumugam, P. ; Baple, E.L. ; Bleda, M. ; Boardman-Pretty, F. ; Boissiere, J.M. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Daugherty, L.C. ; Devereau, A. ; Foulger, R.E. ; Fowler, T. ; Furió-Tarí, P. ; Halai, D. ; Hamblin, A. ; Henderson, S. ; Holman, J.E. ; Hubbard, T.J.P. ; Ibáñez, K. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; Mason, J. ; McDonagh, E.M. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pullinger, J. ; Rahim, T. ; Riesgo-Ferreiro, P. ; Rogers, T. ; Ryten, M. ; Savage, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K.R. ; Sosinsky, A. ; Stevens, H.E. ; Stuckey, A. ; Sultana, R. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Watters, S.A. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Zarowiecki, M.

Genetics in medicine, 2023-01, Vol.25 (1), p.76-89 [Periódico revisado por pares]

United States: Elsevier Inc

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