학술논문
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'학술논문'
에서 검색결과 346건 | 목록
1~20
Academic Journal
Zagorec, Nikola; Calamel, Alizée; Delaporte, Margaux; Olinger, Eric; Orr, Sarah; Sayer, John A.; Pillay, Vignesh-Guru; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frederic; Nambot, Sophie; Faivre, Laurence; Ars, Elisabet; Torra, Roser; Ong, Albert C.M.; Devuyst, Olivier; Perico, Noberto; Després, Aurore Michel; Lemoine, Hugo; de Fallois, Jonathan; Brousse, Romain; Hummel, Aurélie; Knebelmann, Bertrand; Maisonneuve, Nathalie; Halbritter, Jan; Le Meur, Yannick; Audrézet, Marie-Pierre; Cornec-Le Gall, Emilie; Winterbottom, Jean; Simms, Roslyn J.; Caroli, Anna; Demoulin, Nathalie; Furlano, Monica; Pybus, Marc; Gansevoort, Ron; Meijer, Esther; Grall, A.; Moal, M.C.; Tanquerel, T.; Hanrotel, C.; Segalen, I.; Lanfranco, L.; C, Mesguen; A, Kersale; A, Capdeville; V, Huynh; Hourmant, M.; Dantal, J.; Giral, M.; Meurette, A.; Lino, M.; Garandeau, C.; Hodemon-Corne, B.; Allain-Launay, E.; Cantarovich, D.; Blancho, G.; Hristea, D.; Couvrat, G.; Fakhouri, F.; Lavainne, F.; Vercel, C.; Chapal, M.; Le Fur, A.; Gourraud, C.; Deltombe, C.; Vigneau, C.; Morin, M.P.; Le Pogamp, P.; Frouget, T.; Gie, S.; Rivalan, J.; Laruelle, E.; Richer, C.; Lorcy, N.; Golbin, L.; Terrasse, M.; Morice, S.; Brenier, H.; Michel, A.; Tomkiewicz, E.; Nguyen, Q.L.; Vabret, E.; Lavergne, A.; Pierre, E.; Chemouny, J.; Halimi, J.M.; Longuet, H.; Gatault, P.; Merieau, E.; Barbet, C.; Buchler, M.; Golea, G.; Ghouti, L.; Gautard, D.; Sautenet, B.; François, M.; Fournier, A.; Baron, C.; Salmon, C.; Rabot, N.; Prat, L.; Valentin, J.F.; Chevallier, E.; Birmele, B.; Genest, C.; Goin, N.; Goumard, A.; Bridoux, F.; Desport, E.; Thierry, A.; Ecotiere, L.; Touchard, G.; Belmouaz, M.; Javaugue, V.; Bauwens, M.; Fride-Leroy, F.; Goussard, G.; Bouteau, I.; Jacquemont, L.; Subra, J.F.; Augusto, J.F.; Duveau, A.; Besson, V.; Cousin, M.; Sayegh, J.; Onno, C.; Maghakian, M.N.; Demiselle, J.; Deschamps, C.; Garnier, A.S.; Guibert, F.; Planchais, M.; Charasse, C.; Stanescu, C.; Le Cacheux, P.; Baluta, S.; Leonetti, F.; Boulahrouz, R.; Ferrier, M.L.; Freguin, C.; Simon, A.; Potier, J.; Coulibaly, J.M.; Colombo, A.; Delezire, A.; Renaudineau, E.; Dolley-Hitze, T.; Perrichot, R.; Michez, E.; Mandart, L.; Menoyo, V.; Pincon, E.; Muresan, C.; Durand, P.Y.; Corlu, L.; Wegner, I.; Siohan, P.; Metes, I.; Guyon-Roger, T.; Wehbe, B.; Gueguen, L.; Drouet, C.; Loheac, C.; Sawadogo, T.; Le Guillou, A.; Le Jeune, M.; Beillard, G.; Lefevre, S.; Chamontin, C.; Georgescu, S.; Jousset, P.; Latif, R.; Massad, M.; Jaulin, J.P.; Querard, A.H.; Ottavioli, J.N.; Target, N.; Chapal, A.; Charpy, V.; Besnier, D.; Regnier-Le Coz, S.; Blanpain, A.; Durault, S.; Larmet, D.; Le Clech, A.; Pouteau, L.M.; Labatut, D.; Coindre, J.P.; Sigogne, M.; Piccoli, G.; Bachelet-Rousseau, C.; Delbes, S.; Fritz, O.; Pourreau, F.; Mzoughi, S.; Guillodo, M.P.; Gosselin, M.; Depraetre, P.; Strullu, B.; Chaffara, E.; Le Mee, M.; Terki, N.; Goulesque, K.; Benarbia, S.; Dimulescu, M.; Rifaat, M.; Duneau, G.; Legrand, D.; Georges, E.; Seret, G.; Babinet, F.; Lanoiselee, S.; Savoiu, C.; Testa, A.; Oancea, I.; Coupel, I.; Parahy, S.; Lefrancois, G.; Briand, E.; Bugnon, D.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boustred, Christopher R.; Brittain, Helen; Chan, Georgia C.; Fowler, Tom; Giess, Adam; Hamblin, Angela; Hubbard, Tim J.P.; Jackson, Rob; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Murugaesu, Nirupa; O’Donovan, Peter; Odhams, Chris A.; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thompson, Simon R.; Welland, Matthew J.; Williams, Eleanor; Boardman-Pretty, Freya; Moutsianas, Loukas; Mueller, Michael; Caulfield, Mark J.; Elgar, Greg; Henderson, Shirley; Jones, Louise J.; Kasperaviciute, Dalia; Need, Anna C.; Patch, Christine; Sosinsky, Alona; Thomas, Ellen R.A.; Tucci, Arianna; Witkowska, Katarzyna; Wood, Suzanne M.
American Journal of Kidney Diseases. 85(4):465-476
Academic Journal
Robert Bentham; Thomas P. Jones; James R. M. Black; Carlos Martinez-Ruiz; Michelle Dietzen; Maria Litovchenko; Kerstin Thol; Thomas B. K. Watkins; Chris Bailey; Oriol Pich; Zhihui Zhang; Peter Van Loo; Mariam Jamal-Hanjani; Carlos Martínez-Ruiz; Takahiro Karasaki; Abigail Bunkum; Sonya Hessey; Wing Kin Liu; Nicolai J. Birkbak; Alexander M. Frankell; Ariana Huebner; Clare Puttick; Crispin T. Hiley; David A. Moore; Dhruva Biswas; Emilia L. Lim; Kristiana Grigoriadis; Maise Al Bakir; Olivia Lucas; Roberto Vendramin; Sophia Ward; Sian Harries; Simone Zaccaria; Rija Zaidi; Lucrezia Patruno; Despoina Karagianni; Sergio A. Quezada; Supreet Kaur Bola; Martin D. Forster; Siow Ming Lee; Corentin Richard; Cristina Naceur-Lombardelli; Francisco Gimeno-Valiente; Krupa Thakkar; Monica Sivakumar; Nnennaya Kanu; Ieva Usaite; Sadegh Saghafinia; Selvaraju Veeriah; Sharon Vanloo; Antonia Toncheva; Paulina Prymas; Bushra Mussa; Michalina Magala; Elizabeth Keene; Michelle M. Leung; Gareth A. Wilson; Rachel Rosenthal; Andrew Rowan; Claudia Lee; Emma Colliver; Katey S. S. Enfield; Mihaela Angelova; Cian Murphy; Maria Zagorulya; Teresa Marafioti; Elaine Borg; Mary Falzon; Reena Khiroya; Yien Ning Sophia Wong; Emilie Martinoni Hoogenboom; Fleur Monk; James W. Holding; Junaid Choudhary; Kunal Bhakhri; Pat Gorman; Robert C. M. Stephens; Maria Chiara Pisciella; Steve Bandula; Jerome Nicod; Angela Dwornik; Angeliki Karamani; Benny Chain; David R. Pearce; Georgia Stavrou; Gerasimos-Theodoros Mastrokalos; Helen L. Lowe; James L. Reading; John A. Hartley; Kayalvizhi Selvaraju; Leah Ensell; Mansi Shah; Piotr Pawlik; Samuel Gamble; Seng Kuong Anakin Ung; Victoria Spanswick; Yin Wu; Jason F. Lester; Sean Dulloo; Dean A. Fennell; Amrita Bajaj; Apostolos Nakas; Azmina Sodha-Ramdeen; Mohamad Tufail; Molly Scotland; Rebecca Boyles; Sridhar Rathinam; Claire Wilson; Gurdeep Matharu; Jacqui A. Shaw; Ekaterini Boleti; Heather Cheyne; Mohammed Khalil; Shirley Richardson; Tracey Cruickshank; Gillian Price; Keith M. Kerr; Sarah Benafif; Dionysis Papadatos-Pastos; James Wilson; Tanya Ahmad; Jack French; Kayleigh Gilbert; Babu Naidu; Akshay J. Patel; Gary Middleton; Aya Osman; Mandeesh Sangha; Gerald Langman; Helen Shackleford; Madava Djearaman; Angela Leek; Jack Davies Hodgkinson; Nicola Totton; Philip Crosbie; Eustace Fontaine; Felice Granato; Juliette Novasio; Kendadai Rammohan; Leena Joseph; Paul Bishop; Vijay Joshi; Sara Waplington; Adam Atkin; Katherine D. Brown; Mathew Carter; Anshuman Chaturvedi; Pedro Oliveira; Colin R. Lindsay; Fiona H. Blackhall; Yvonne Summers; Matthew G. Krebs; Antonio Paiva-Correia; Jonathan Tugwood; Caroline Dive; Hugo J. W. L. Aerts; Roland F. Schwarz; Tom L. Kaufmann; Zoltan Szallasi; Miklos Diossy; Roberto Salgado; Jonas Demeulemeester; Carla Castignani; Stephan Beck; George Kassiotis; Imran Noorani; Clare E. Weeden; Eva Grönroos; Jacki Goldman; Mickael Escudero; Philip Hobson; Stefan Boeing; Tamara Denner; Vittorio Barbè; Wei-Ting Lu; William Hill; Yutaka Naito; Erik Sahai; Zoe Ramsden; Emma Nye; Richard Kevin Stone; Jayant K. Rane; Jeanette Kittel; Kerstin Haase; Kexin Koh; Rachel Scott; Karl S. Peggs; Catarina Veiga; Gary Royle; Charles-Antoine Collins-Fekete; Francesco Fraioli; Paul Ashford; Arjun Nair; Alexander James Procter; Asia Ahmed; Magali N. Taylor; David Lawrence; Davide Patrini; Neal Navani; Ricky M. Thakrar; Sam M. Janes; Zoltan Kaplar; Allan Hackshaw; Camilla Pilotti; Rachel Leslie; Anne-Marie Hacker; Sean Smith; Aoife Walker; Anca Grapa; Hanyun Zhang; Khalid AbdulJabbar; Xiaoxi Pan; Yinyin Yuan; David Chuter; Mairead MacKenzie; Serena Chee; Patricia Georg; Aiman Alzetani; Judith Cave; Eric Lim; Andrew G. Nicholson; Paulo De Sousa; Simon Jordan; Alexandra Rice; Hilgardt Raubenheimer; Harshil Bhayani; Lyn Ambrose; Anand Devaraj; Hema Chavan; Sofina Begum; Silviu I. Buderi; Daniel Kaniu; Mpho Malima; Sarah Booth; Nadia Fernandes; Pratibha Shah; Chiara Proli; Madeleine Hewish; Sarah Danson; Michael J. Shackcloth; Lily Robinson; Peter Russell; Kevin G. Blyth; Andrew Kidd; Craig Dick; John Le Quesne; Alan Kirk; Mo Asif; Rocco Bilancia; Nikos Kostoulas; Jennifer Whiteley; Mathew Thomas; J. C. Ambrose; P. Arumugam; E. L. Baple; M. Bleda; F. Boardman-Pretty; J. M. Boissiere; C. R. Boustred; H. Brittain; M. J. Caulfield; G. C. Chan; C. E. H. Craig; L. C. Daugherty; A. de Burca; A. Devereau; G. Elgar; R. E. Foulger; T. Fowler; P. Furió-Tarí; J. M. Hackett; D. Halai; A. Hamblin; S. Henderson; J. E. Holman; T. J. P. Hubbard; K. Ibáñez; R. Jackson; L. J. Jones; D. Kasperaviciute; M. Kayikci; L. Lahnstein; L. Lawson; S. E. A. Leigh; I. U. S. Leong; F. J. Lopez; F. Maleady-Crowe; J. Mason; E. M. McDonagh; L. Moutsianas; M. Mueller; N. Murugaesu; A. C. Need; C. A. Odhams; C. Patch; D. Perez-Gil; D. Polychronopoulos; J. Pullinger; T. Rahim; A. Rendon; P. Riesgo-Ferreiro; T. Rogers; M. Ryten; K. Savage; K. Sawant; R. H. Scott; A. Siddiq; A. Sieghart; D. Smedley; K. R. Smith; A. Sosinsky; W. Spooner; H. E. Stevens; A. Stuckey; R. Sultana; E. R. A. Thomas; S. R. Thompson; C. Tregidgo; A. Tucci; E. Walsh; S. A. Watters; M. J. Welland; E. Williams; K. Witkowska; S. M. Wood; M. Zarowiecki; Charles Swanton; Nicholas McGranahan
Nat Genet
TRACERx Consortium & Genomics England Consortium 2025, 'ImmuneLENS characterizes systemic immune dysregulation in aging and cancer', Nature Genetics, vol. 57, no. 3, 305, pp. 694-705. https://doi.org/10.1038/s41588-025-02086-5
TRACERx Consortium & Genomics England Consortium 2025, 'ImmuneLENS characterizes systemic immune dysregulation in aging and cancer', Nature Genetics, vol. 57, no. 3, 305, pp. 694-705. https://doi.org/10.1038/s41588-025-02086-5
Academic Journal
Mary E. Booth; Henry M. Wood; Mark A. Travis; J. C. Ambrose; p. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C. R. Boustred; H. Brittain; M. A. Brown; M. J. Caulfield; G. C. Chan; A. Giess; J. N. Griffin; A. Hamblin; S. Henderson; T. J. P. Hubbard; R. Jackson; L. J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S. E. A. Leigh; I. U. S. Leong; F. J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A. C. Need; P. O‘Donovan; C. A. Odhams; C. Patch; D. Perez-Gil; M. B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R. H. Scott; A. Siddiq; A. Sieghart; S. C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A. L. Taylor Tavares; E. R. A. Thomas; S. R. Thompson; A. Tucci; M. J. Welland; E. Williams; K. Witkowska; S. M. Wood; M. Zarowiecki; Phil Quirke; Heike I. Grabsch
Gastric Cancer
Genomics England Research Consortium 2025, 'The relationship between the gastric cancer microbiome and clinicopathological factors : a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas', Gastric Cancer, vol. 28, no. 3, pp. 358-371. https://doi.org/10.1007/s10120-025-01588-9
Genomics England Research Consortium 2025, 'The relationship between the gastric cancer microbiome and clinicopathological factors : a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas', Gastric Cancer, vol. 28, no. 3, pp. 358-371. https://doi.org/10.1007/s10120-025-01588-9
Academic Journal
Elhassan E. A. E.; Collins K. E.; Heneghan S.; Gilbert E.; Yang H.; Senum S. R.; Schauer R. S.; Elbarougy D. E.; Madden S. F.; Murray S. L.; Sadeghi-Alavijeh O.; Carmichael J.; Gale D.; Osman S. M.; Kennedy C.; Griffin M. D.; Casserly L.; Moloney B.; O'Hara P.; Mallawaarachchi A.; Ciurli F.; Wood S. M.; Witkowska K.; Williams E.; Welland M. J.; Walsh E.; Tucci A.; Thompson S. R.; Thomas E. R. A.; Tanguy M.; Stuckey A.; Sosinsky A.; Smith S. C.; Sieghart A.; Siddiq A.; Scott R. H.; Sawant K.; Savage K.; Rogers T.; Rendon A.; Rahim T.; Pullinger J.; Pereira M. B.; Perez-Gil D.; Patch C.; Odhams C. A.; O'Donovan P.; Need A. C.; Murugaesu N.; Mueller M.; Moutsianas L.; Maleady-Crowe F.; Lopez J. F.; Leong I. U. S.; Leigh S. E. A.; Lahnstein L.; Kousathanas A.; Kayikci M.; Kasperaviciute D.; Jones L. J.; Jackson R.; Hubbard T. J. P.; Henderson S.; Hamblin A.; Giess A.; Fowler T.; Chan G. C.; Caulfield M. J.; Brittain H.; Boustred C. R.; Boardman-Pretty F.; Bleda M.; Arumugam P.; Ambrose J. C.; Graziano C.; Wolff C. A.; Schonauer R.; La Manna G.; Durand A.; Limou S.; Halbritter J.; Capelli I.; McCann E.; Harris P. C.; Cavalleri G. L.; Benson K. A.; Conlon P. J.
J Nephrol
Academic Journal
Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossée, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William; Wierenga, Klaas; Klee, Eric; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel; Ambrose, J; Arumugam, P; Baple, E; Bleda, M; Boardman-Pretty, F; Boissiere, J; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Craig, C; Daugherty, L; de Burca, A; Devereau, A; Elgar, G; Foulger, R; Fowler, T; Furió-Tarí, P; Hackett, J; Halai, D; Hamblin, A; Henderson, S; Holman, J; Hubbard, T; Ibáñez, K; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Mason, J; Mcdonagh, E; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; Odhams, C; Patch, C; Perez-Gil, D; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Savage, K; Sawant, K; Scott, R; Siddiq, A; Sieghart, A; Smedley, D; Smith, K; Sosinsky, A; Spooner, W; Stevens, H; Stuckey, A; Sultana, R; Thomas, E; Thompson, S; Tregidgo, C; Tucci, A; Walsh, E; Watters, S; Welland, M; Williams, E; Witkowska, K; Wood, S; Zarowiecki, M
Brain. 147:3681-3689
Academic Journal
Chris Bailey; Oriol Pich; Kerstin Thol; Thomas B. K. Watkins; Jens Luebeck; Andrew Rowan; Georgia Stavrou; Natasha E. Weiser; Bhargavi Dameracharla; Robert Bentham; Wei-Ting Lu; Jeanette Kittel; S. Y. Cindy Yang; Brooke E. Howitt; Natasha Sharma; Maria Litovchenko; Roberto Salgado; King L. Hung; Alex J. Cornish; David A. Moore; Richard S. Houlston; Vineet Bafna; Howard Y. Chang; Serena Nik-Zainal; Nnennaya Kanu; Nicholas McGranahan; J. C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C. R. Boustred; H. Brittain; M. A. Brown; M. J. Caulfield; G. C. Chan; A. Giess; J. N. Griffin; A. Hamblin; S. Henderson; T. J. P. Hubbard; R. Jackson; L. J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S. E. A. Leigh; I. U. S. Leong; F. J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A. C. Need; P. O’Donovan; C. A. Odhams; C. Patch; D. Perez-Gil; M. B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R. H. Scott; A. Siddiq; A. Sieghart; S. C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A. L. Taylor Tavares; E. R. A. Thomas; S. R. Thompson; A. Tucci; M. J. Welland; E. Williams; K. Witkowska; S. M. Wood; M. Zarowiecki; Adrienne M. Flanagan; Paul S. Mischel; Mariam Jamal-Hanjani; Charles Swanton
Nature
Academic Journal
Schönauer, Ria; Sierks, Dana; Boerrigter, Melissa; Jawaid, Tabinda; Caroff, Lea; Audrezet, Marie-Pierre; Friedrich, Anja; Shaw, Melissa; Degenhardt, Jan; Forberger, Mirjam; de Fallois, Jonathan; Bläker, Hendrik; Bergmann, Carsten; Gödiker, Juliana; Schindler, Philipp; Schlevogt, Bernhard; Müller, Roman-U.; Berg, Thomas; Patterson, Ilse; Griffiths, William J.; Sayer, John A.; Popp, Bernt; Torres, Vicente E.; Hogan, Marie C.; Somlo, Stefan; Watnick, Terry J.; Nevens, Frederik; Besse, Whitney; Cornec-Le Gall, Emilie; Harris, Peter C.; Drenth, Joost P.H.; Halbritter, Jan; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.
Gastroenterology. 166(5):902-914
Academic Journal
Yahya, Samar, MBBS, MSc; Smith, Claire E.L., PhD; Poulter, James A., PhD; McKibbin, Martin, FRCOphth; Arno, Gavin, PhD; Ellingford, Jamie, PhD; Kämpjärvi, Kati, PhD; Khan, Muhammad I., MS, PhD; Cremers, Frans P.M., PhD; Hardcastle, Alison J., PhD; Castle, Bruce, MD, MRCOG; Steel, David H.W., FRCOphth, MD; Webster, Andrew R., FRCS, FRCOphth; Black, Graeme C., PhD; El-Asrag, Mohammed E., MRes, PhD; Ali, Manir, PhD; Toomes, Carmel, PhD; Inglehearn, Chris F., PhD; Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Pontikos, Nikolas; Cheetham, Michael; Fiorentino, Alessia; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.
Ophthalmology. 130(1):68-76
Academic Journal
Natalia Dominik; Stefania Magri; Riccardo Currò; Elena Abati; Stefano Facchini; Marinella Corbetta; Hannah Macpherson; Daniela Di Bella; Elisa Sarto; Igor Stevanovski; Sanjog R Chintalaphani; Fulya Akcimen; Arianna Manini; Elisa Vegezzi; Ilaria Quartesan; Kylie-Ann Montgomery; Valentina Pirota; Emmanuele Crespan; Cecilia Perini; Glenda Paola Grupelli; Pedro J Tomaselli; Wilson Marques; J C Ambrose; P Arumugam; E L Baple; M Bleda; F Boardman-Pretty; J M Boissiere; C R Boustred; H Brittain; M J Caulfield; G C Chan; C E H Craig; L C Daugherty; A de Burca; A Devereau; G Elgar; R E Foulger; T Fowler; P Furió-Tarí; E Gustavsson; J M Hackett; D Halai; A Hamblin; S Henderson; J E Holman; T J P Hubbard; K Ibáñez; R Jackson; L J Jones; D Kasperaviciute; M Kayikci; L Lahnstein; K Lawson; S E A Leigh; I U S Leong; F J Lopez; F Maleady-Crowe; J Mason; E M McDonagh; L Moutsianas; M Mueller; N Murugaesu; A C Need; C A Odhams; C Patch; D Perez-Gil; D Polychronopoulos; J Pullinger; T Rahim; A Rendon; P Riesgo-Ferreiro; T Rogers; M Ryten; B Rugginini; K Savage; K Sawant; R H Scott; A Siddiq; A Sieghart; D Smedley; K R Smith; A Sosinsky; W Spooner; H E Stevens; A Stuckey; R Sultana; E R A Thomas; S R Thompson; C Tregidgo; A Tucci; E Walsh; S A Watters; M J Welland; E Williams; K Witkowska; S M Wood; M Zarowiecki; Joseph Shaw; James Polke; Ettore Salsano; Silvia Fenu; Davide Pareyson; Chiara Pisciotta; George K Tofaris; Andrea H Nemeth; John Ealing; Aleksandar Radunovic; Seamus Kearney; Kishore R Kumar; Steve Vucic; Marina Kennerson; Mary M Reilly; Henry Houlden; Ira Deveson; Arianna Tucci; Franco Taroni; Andrea Cortese
Brain
Academic Journal
Olinger, Eric; Wilson, Ian J.; Orr, Sarah; Barroso-Gil, Miguel; Neatu, Ruxandra; Atan, Denize; Sayer, John A.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.
Genetics in Medicine Open. 2
Academic Journal
Ibañez, Kristina, PhD; Polke, James, PhD; Hagelstrom, R Tanner, PhD; Dolzhenko, Egor, PhD; Pasko, Dorota, PhD; Thomas, Ellen Rachel Amy, PhD; Daugherty, Louise C, MSc; Kasperaviciute, Dalia, PhD; Smith, Katherine R, PhD; Deans, Zandra C, PhD; Hill, Sue, Prof; Fowler, Tom, PhD; Scott, Richard H, PhD; Hardy, John, Prof; Chinnery, Patrick F, Prof; Houlden, Henry, Prof; Rendon, Augusto, PhD; Caulfield, Mark J, Prof; Eberle, Michael A, PhD; Taft, Ryan J, PhD; Tucci, Arianna, PhD; McDonagh, Ellen M; Rueda, Antonio; Polychronopoulos, Dimitris; Chan, Georgia; Angus-Leppan, Heather; Bhatia, Kailash P; Davison, James E; Festenstein, Richard; Fratta, Pietro; Giunti, Paola; Howard, Robin; Venkata, Laxmi; Laurá, Matilde; McEntagart, Meriel; Menzies, Lara; Morris, Huw; Reilly, Mary M; Robinson, Robert; Rosser, Elisabeth; Faravelli, Francesca; Schrag, Anette; Schott, Jonathan M; Warner, Thomas T; Wood, Nicholas W; Bourn, David; Eggleton, Kelly; Labrum, Robyn; Twiss, Philip; Abbs, Stephen; Santos, Liana; Almheiri, Ghareesa; Sheikh, Isabella; Vandrovcova, Jana; Patch, Christine; Taylor Tavares, Ana Lisa; Hyder, Zerin; Need, Anna; Brittain, Helen; Baple, Emma; Moutsianas, Loukas; Deshpande, Viraj; Perry, Denise L; Ajay, Subramanian S.; Chawla, Aditi; Rajan, Vani; Oprych, Kathryn; Douglas, Angela; Wilson, Gill; Ellard, Sian; Temple, I Karen; Mumford, Andrew; McMullan, Dom; Naresh, Kikkeri; Flinter, Frances A; Taylor, Jenny C; Greenhalgh, Lynn; Newman, William; Brennan, Paul; Sayer, John A; Raymond, F Lucy; Chitty, Lyn S; Ambrose, John C.; Arumugam, Prabhu; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Craig, Clare E.H.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Furió-Tarí, Pedro; Hackett, Joanne; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kayikci, Melis; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; Mueller, Michael; Murugaesu, Nirupa; Odhams, Chris A.; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Thompson, Simon R.; Tregidgo, Carolyn; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena
The Lancet Neurology. 21(3):234-245
Academic Journal
Laura R. Claus; Chuan Chen; Jennifer Stallworth; Joshua L. Turner; Gisela G. Slaats; Alexandra L. Hawks; Holly Mabillard; Sarah R. Senum; Sujata Srikanth; Heather Flanagan-Steet; Raymond J. Louie; Josh Silver; Jordan Lerner-Ellis; Chantal Morel; Chloe Mighton; Frank Sleutels; Marjon van Slegtenhorst; Tjakko van Ham; Alice S. Brooks; Eiske M. Dorresteijn; Tahsin Stefan Barakat; Karin Dahan; Nathalie Demoulin; Eric Jean Goffin; Eric Olinger; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Mark J. Caulfield; Georgia C. Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Martin Larsen; Jens Michael Hertz; Marc R. Lilien; Lena Obeidová; Tomas Seeman; Hillarey K. Stone; Larissa Kerecuk; Mihai Gurgu; Fjodor A. Yousef Yengej; Carola M.E. Ammerlaan; Maarten B. Rookmaaker; Christian Hanna; R. Curtis Rogers; Karen Duran; Edith Peters; John A. Sayer; Gijs van Haaften; Peter C. Harris; Kun Ling; Jennifer M. Mason; Albertien M. van Eerde; Richard Steet
Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)
Academic Journal
Eva Niggl; Arjan Bouman; Lauren C. Briere; Remco M. Hoogenboezem; Ilse Wallaard; Joohyun Park; Jakob Admard; Martina Wilke; Emilio D.R.O. Harris-Mostert; Minetta Elgersma; Jennifer Bain; Meena Balasubramanian; Siddharth Banka; Paul J. Benke; Miriam Bertrand; Alyssa E. Blesson; Jill Clayton-Smith; Jamie M. Ellingford; Madelyn A. Gillentine; Dana H. Goodloe; Tobias B. Haack; Mahim Jain; Ian Krantz; Sharon M. Luu; Molly McPheron; Candace L. Muss; Sarah E. Raible; Nathaniel H. Robin; Michael Spiller; Susan Starling; David A. Sweetser; Isabelle Thiffault; Francesco Vetrini; Dennis Witt; Emily Woods; Dihong Zhou; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Maria T. Acosta; David R. Adams; Raquel L. Alvarez; Justin Alvey; Aimee Allworth; Ashley Andrews; Euan A. Ashley; Ben Afzali; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Margaret Delgado; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Jiayu Fu; William A. Gahl; Ian Glass; Page C. Goddard; Rena A. Godfrey; Alana Grajewski; Meghan C. Halley; Rizwan Hamid; Neal Hanchard; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yan Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Emerald Kaitryn; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; AudreyStephannie Maghiro; Rachel Mahoney; May Christine Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Matthew Might; Danny Miller; Ghayda Mirzaa; Eva Morava; Paolo Moretti; Marie Morimoto; John J. Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Jeanette C. Papp; Neil H. Parker; Leoyklang Petcharet; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Elizabeth Rosenthal; Francis Rossignol; Maura Ruzhnikov; Marla Sabaii; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Elaine Seto; Prashant Sharma; Vandana Shashi; Emily Shelkowitz; Sam Sheppeard; Jimann Shin; Edwin Silverman; Janet Sinsheimer; Kathy Sisco; Edward Smith; Kevin Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca Spillmann; Andrew Stergachis; Joan Stoler; Kathleen Sullivan; Jennifer Sullivan; Shirley Sutton; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Shinya Yamamoto; Zhe Zhang; Stephan Zuchner; Ype Elgersma; Annelot C.M. van Esbroeck
Genomics England Research Consortium, Undiagnosed Diseases Network, Niggl, E, Bouman, A, Briere, L C, Hoogenboezem, R M, Wallaard, I, Park, J, Admard, J, Wilke, M, Harris-Mostert, E D R O, Elgersma, M, Balasubramanian, M, Banka, S, Benke, P J, Bertrand, M, Blesson, A E, Clayton-Smith, J, Ellingford, J M, Gillentine, M A, Goodloe, D H, Haack, T B, Jain, M, Krantz, I, Luu, S M, McPheron, M, Muss, C L, Raible, S E, Robin, N H, Sweetser, D A, Thiffault, I, Vetrini, F , Witt, D, Woods, E, Zhou, D, Elgersma, Y & van Esbroeck, A C M 2023, 'HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 8, pp. 1414-1435. https://doi.org/10.1016/j.ajhg.2023.07.005
Academic Journal
Oyediran Akinrinade; Robert Lesurf; J. C. Ambrose; P. Arumugam; M. Bleda; F. Boardman-Pretty; C. R. Boustred; H. Brittain; M. J. Caulfield; G. C. Chan; T. Fowler; A. Giess; A. Hamblin; S. Henderson; T. J. P. Hubbard; R. Jackson; L. J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; S. E. A. Leigh; I. U. S. Leong; F. J. Lopez; F. Maleady-Crowe; L. Moutsianas; M. Mueller; N. Murugaesu; A. C. Need; P. O‘Donovan; C. A. Odhams; C. Patch; D. Perez-Gil; M. B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R. H. Scott; A. Siddiq; A. Sieghart; S. C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; E. R. A. Thomas; S. R. Thompson; A. Tucci; E. Walsh; M. J. Welland; E. Williams; K. Witkowska; S. M. Wood; Jane Lougheed; Tapas Mondal; John Smythe; Luis Altamirano-Diaz; Erwin Oechslin; Seema Mital
J Cardiovasc Transl Res
Academic Journal
Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; 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, A.; 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.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Alexander, Elizabeth; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan, Jr.; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Human Genetics and Genomics Advances. 4(2)
Academic Journal
Annalisa Vetro; Cristiana Pelorosso; Simona Balestrini; Alessio Masi; Sophie Hambleton; Emanuela Argilli; Valerio Conti; Simone Giubbolini; Rebekah Barrick; Gaber Bergant; Karin Writzl; Emilia K. Bijlsma; Theresa Brunet; Pilar Cacheiro; Davide Mei; Anita Devlin; Mariëtte J.V. Hoffer; Keren Machol; Guido Mannaioni; Masamune Sakamoto; Manoj P. Menezes; Thomas Courtin; Elliott Sherr; Riccardo Parra; Ruth Richardson; Tony Roscioli; Marcello Scala; Celina von Stülpnagel; Damian Smedley; Francesca Pochiero; Francesco Mari; Venkateswaran Ramesh; Valeria Capra; Margherita Mancardi; Boris Keren; Cyiril Mignot; Matteo Lulli; Kendall Parks; Helen Griffin; Melanie Brugger; Vincenzo Nigro; Yuko Hirata; Reiko Koichihara; Borut Peterlin; Ryuto Maki; Yohei Nitta; John C. Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R. Boustred; Helen Brittain; Matthew A. Brown; Mark J. Caulfield; Georgia C. Chan; Adam Giess; John N. Griffin; Angela Hamblin; Shirley Henderson; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C. Need; Peter O’Donovan; Chris A. Odhams; Christine Patch; Daniel Perez-Gil; Marina B. Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H. Scott; Afshan Siddiq; Alexander Sieghart; Samuel C. Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R.A. Thomas; Simon R. Thompson; Arianna Tucci; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki; Annalaura Torella; Jun Tohyama; Keisuke Hamada; Kazuhiro Ogata; Takashi Suzuki; Atsushi Sugie; Jasper J. van der Smagt; Koen van Gassen; Stephanie Valence; Emma Vittery; Stephen Malone; Mitsuhiro Kato; Naomichi Matsumoto; Gian Michele Ratto; Renzo Guerrini
Am J Hum Genet
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta;Boardman -Pretty , Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley;/titolo:Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration/doi:10.1016%2Fj.ajhg.2023.06.008/rivista:American journal of human genetics/anno:2023/pagina_da:1356/pagina_a:1376/intervallo_pagine:1356–1376/volume:110
American Journal of Human Genetics, vol 110, iss 8
American journal of human genetics 110 (2023): 1356–1376. doi:10.1016/j.ajhg.2023.06.008
info:cnr-pdr/source/autori:Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina;Smedley, Damian;Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta;
American Journal of Human Genetics, vol 110, iss 8
Academic Journal
Ambrose, J.C. ; Arumugam, P. ; Bevers, R. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Brown, M.A.; Caulfield, M.J. ; Chan, G.C. ; Giess, A. ; Griffin, J.N.; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Lakey, A.; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; McEntagart, M. ; Minneci, F. ; Mitchell, J. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; 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, A. ; 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. ; Zarowiecki, M. ; Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo ; Thomas, N. Simon ; Ashton, James J. ; Stafford, Imogen ; Baralle, Diana ; Rehm, Heidi L. ; O’Donnell-Luria, Anne ; Ennis, Sarah
In Genetics in Medicine April 2024 26(4)
Academic Journal
Helena Martins Custodio; Lisa M Clayton; Ravishankara Bellampalli; Susanna Pagni; Katri Silvennoinen; Richard Caswell; John C Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R Boustred; Helen Brittain; Matthew A Brown; Mark J Caulfield; Georgia C Chan; Adam Giess; John N Griffin; Angela Hamblin; Shirley Henderson; Tim J P Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Anna Lakey; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Jonathan Mitchell; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Peter O'Donovan; Chris A Odhams; Christine Patch; Daniel Perez-Gil; Marina B Pereira; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Samuel C Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R A Thomas; Simon R Thompson; Arianna Tucci; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Andreas Brunklaus; Renzo Guerrini; Bobby P C Koeleman; Johannes R Lemke; Rikke S Møller; Ingrid E Scheffer; Sarah Weckhuysen; Federico Zara; Sameer Zuberi; Karoline Kuchenbaecker; Simona Balestrini; James D Mills; Sanjay M Sisodiya
Brain
Academic Journal
Matteo Zanovello; Kristina Ibáñez; Anna-Leigh Brown; Prasanth Sivakumar; Alessandro Bombaci; Liana Santos; Joke J F A van Vugt; Giuseppe Narzisi; Ramita Karra; Sonja W Scholz; Jinhui Ding; J Raphael Gibbs; Adriano Chiò; Clifton Dalgard; Ben Weisburd; John C Ambrose; Prabhu Arumugam; Roel Bevers; Marta Bleda; Freya Boardman-Pretty; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Greg Elgar; Tom Fowler; Adam Giess; Angela Hamblin; Shirley Henderson; Tim J P Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Meriel McEntagart; Federico Minneci; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Augusto Rendon; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Samuel C Smith; Alona Sosinsky; Alexander Stuckey; Mélanie Tanguy; Ana Lisa Taylor Tavares; Ellen R A Thomas; Simon R Thompson; Arianna Tucci; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Wouter Van Rheenen; Sara L Pulit; Annelot M Dekker; Ahmad Al Khleifat; William J Brands; Alfredo Iacoangeli; Kevin P Kenna; Ersen Kavak; Maarten Kooyman; Russell L McLaughlin; Bas Middelkoop; Matthieu Moisse; Raymond D Schellevis; Aleksey Shatunov; William Sproviero; Gijs H P Tazelaar; Rick A A Van der Spek; Perry T C Van Doormaal; Kristel R Van Eijk; Joke Van Vugt; A Nazli Basak; Ian P Blair; Jonathan D Glass; Orla Hardiman; Winston Hide; John E Landers; Jesus S Mora; Karen E Morrison; Stephen Newhouse; Wim Robberecht; Christopher E Shaw; Pamela J Shaw; Philip Van Damme; Michael A Van Es; Naomi R Wray; Ammar Al-Chalabi; Leonard H Van den Berg; Jan H Veldink; Michael G Hanna; Linda Greensmith; Hemali Phatnani; Bryan J Traynor; James Polke; Henry Houlden; Pietro Fratta
Brain
Zanovello, M, Ibáñez, K, Brown, A-L, Sivakumar, P, Bombaci, A, Santos, L, van Vugt, J JF A, Narzisi, G, Karra, R, Scholz, S W, Ding, J, Gibbs, J R, Chiò, A, Dalgard, C, Weisburd, B, Hanna, M G, Greensmith, L, Phatnani, H, Veldink, J H, Traynor, B J, Polke, J, Houlden, H, Fratta, P, Tucci, A, Morrison, K, The American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium & The NYGC ALS Consortium 2023, 'Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population', Brain, vol. 146, no. 7, pp. 2723-2729. https://doi.org/10.1093/brain/awad050
Zanovello, M, Ibáñez, K, Brown, A-L, Sivakumar, P, Bombaci, A, Santos, L, van Vugt, J J
Academic Journal
Heba Morsy; Mehdi Benkirane; Elisa Cali; Clarissa Rocca; Kristina Zhelcheska; Valentina Cipriani; Evangelia Galanaki; Reza Maroofian; Stephanie Efthymiou; David Murphy; Mary O’Driscoll; Mohnish Suri; Siddharth Banka; Jill Clayton-Smith; Thomas Wright; Melody Redman; Jennifer A. Bassetti; Mathilde Nizon; Benjamin Cogne; Rami Abu Jamra; Tobias Bartolomaeus; Marion Heruth; Ilona Krey; Janina Gburek-Augustat; Dagmar Wieczorek; Felix Gattermann; Meriel Mcentagart; Alice Goldenberg; Lucie Guyant-Marechal; Hector Garcia-Moreno; Paola Giunti; Brigitte Chabrol; Severine Bacrot; Roger Buissonnière; Virginie Magry; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Béla Melegh; András Szabó; Katalin Sümegi; Mireille Cossée; Monica Ziff; Russell Butterfield; David Hunt; Georgina Bird-Lieberman; Michael Hanna; Michel Koenig; Michael Stankewich; Jana Vandrovcova; Henry Houlden; J.C. Ambrose; P. Arumugam; E.L. Baple; M. Bleda; F. Boardman-Pretty; J.M. Boissiere; C.R. Boustred; H. Brittain; M.J. Caulfield; G.C. Chan; C.E.H. Craig; L.C. Daugherty; A. de Burca; A. Devereau; G. Elgar; R.E. Foulger; T. Fowler; P. Furió-Tarí; J.M. Hackett; D. Halai; A. Hamblin; S. Henderson; J.E. Holman; T.J.P. Hubbard; K. Ibáñez; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; L. Lahnstein; K. Lawson; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; J. Mason; E.M. McDonagh; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; C.A. Odhams; C. Patch; D. Perez-Gil; D. Polychronopoulos; J. Pullinger; T. Rahim; A. Rendon; P. Riesgo-Ferreiro; T. Rogers; M. Ryten; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; D. Smedley; K.R. Smith; A. Sosinsky; W. Spooner; H.E. Stevens; A. Stuckey; R. Sultana; E.R.A. Thomas; S.R. Thompson; C. Tregidgo; A. Tucci; E. Walsh; S.A. Watters; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki
Genet Med
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M, Cogne, B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D, Gattermann,F , Mcentagart, M, Goldenberg, A, Guyant-Marechal, L, Garcia-Moreno, H, Giunti, P, Chabrol, B, Bacrot, S, Buissonnière, R, Magry, V, Gowda, V K, Srinivasan, V M, Melegh, B, Szabó, A, Sümegi, K, Cossée, M, Ziff, M, Butterfield, R, Hunt, D, Bird-Lieberman, G, Hanna, M, Koenig, M, Stankewich, M, Vandrovcova, J & Houlden, H 2023, 'Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89. https://doi.org/10.1016/j.gim.2022.09.013
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M, Cogne, B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D, Gattermann,
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