학술논문
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'학술논문'
에서 검색결과 118건 | 목록
1~20
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
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
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
Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; 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.; Need, A.C.; Odhams, C.A.; 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.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa ; Rocca, Clarissa ; Zhelcheska, Kristina ; Cipriani, Valentina ; Galanaki, Evangelia ; Maroofian, Reza ; Efthymiou, Stephanie ; Murphy, David ; O’Driscoll, Mary ; Suri, Mohnish ; Banka, Siddharth ; Clayton-Smith, Jill ; Wright, Thomas ; Redman, Melody ; Bassetti, Jennifer A. ; Nizon, Mathilde ; Cogne, Benjamin ; Jamra, Rami Abu ; Bartolomaeus, Tobias ; Heruth, Marion ; Krey, Ilona ; Gburek-Augustat, Janina ; Wieczorek, Dagmar ; Gattermann, Felix ; Mcentagart, Meriel ; Goldenberg, Alice ; Guyant-Marechal, Lucie ; Garcia-Moreno, Hector ; Giunti, Paola ; Chabrol, Brigitte ; Bacrot, Severine ; Buissonnière, Roger ; Magry, Virginie ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Melegh, Béla ; Szabó, András ; Sümegi, Katalin ; Cossée, Mireille ; Ziff, Monica ; Butterfield, Russell ; Hunt, David ; Bird-Lieberman, Georgina ; Hanna, Michael ; Koenig, Michel ; Stankewich, Michael ; Vandrovcova, Jana ; Houlden, Henry
In Genetics in Medicine January 2023 25(1):76-89
Academic Journal
Nerea Moreno-Ruiz; 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; A. Giess; 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; A. Kousathanas; 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; A. Orioli; C. Patch; D. Perez-Gil; M. B. Pereira; 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; S. C. Smith; A. Sosinsky; W. Spooner; H. E. Stevens; A. Stuckey; R. Sultana; M. Tanguy; 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; Oscar Lao; Juan Ignacio Aróstegui; Hafid Laayouni; Ferran Casals
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
Park, Joohyun; Tucci, Arianna; Cali, Elisa; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Vestito, Letizia; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Maroofian, Reza; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J H; Horvath, Rita; Cipriani, Valentina; Chinnery, Patrick F; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K; Consortium, Genomics England Research; Wood, Nicholas W; Hayer, Stefanie N; Bender, Friedemann; Menden, Benita; Demidov, German; Cordts, Isabell; Klein, Katrin; Nguyen, Huu Phuc; Krauss, Joachim K; Blahak, Christian; Strom, Tim M; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Maček, Boris; Rocca, Clarissa; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E; Smedley, Damian; Riess, Olaf; Schöls, Ludger; Houlden, Henry; Haack, Tobias B; Hengel, Holger; Senderek, Jan; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Butryn, Michaela; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furió-Tarí, P.; Hackett, J. M.; Halai, D.; Velic, Ana; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibáñez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lam, Tanya; Lawson, K.; 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.; Galanaki, Evangelia; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 10, pp. 2079-2090
Genetics in Medicine, 24, 10, pp. 2079-2090
Academic Journal
Owen, N; Toms, M; Young, RM; Eintracht, J; Sarkar, H; Brooks, BP; Moosajee, M; Ambrose, JC; Baple, EL; Bleda, M; Boardman-Pretty, F; Boissiere, JM; Boustred, CR; Caulfield, MJ; Chan, GC; Craig, CEH; Daugherty, LC; de, BA; Devereau, A; Elgar, G; Foulger, RE; Fowler, T; Furió-Tarí, P; Hackett, JM; Halai, D; Holman, JE; Hubbard, TJP; Jackson, R; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; Mason, J; McDonagh, EM; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; Odhams, CA; 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, RH; Siddiq, A; Sieghart, A; Smedley, D; Smith, KR; Sosinsky, A; Spooner, W; Stevens, HE; Stuckey, A; Sultana, R; Thomas, ERA; Thompson, SR; Tregidgo, C; Tucci, A; Walsh, E; Watters, SA; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M
Genet Med
Academic Journal
Alistair T Pagnamenta; Rauan Kaiyrzhanov; Yaqun Zou; Sahar I Da'as; Reza Maroofian; Sandra Donkervoort; Natalia Dominik; Marlen Lauffer; Matteo P Ferla; Andrea Orioli; Adam Giess; Arianna Tucci; Christian Beetz; Maryam Sedghi; Behnaz Ansari; Rita Barresi; Keivan Basiri; Andrea Cortese; Greg Elgar; Miguel A Fernandez-Garcia; Janice Yip; A Reghan Foley; Nicholas Gutowski; Heinz Jungbluth; Saskia Lassche; Tim Lavin; Carlo Marcelis; Peter Marks; Chiara Marini-Bettolo; Livija Medne; Ali-Reza Moslemi; Anna Sarkozy; Mary M Reilly; Francesco Muntoni; Francisca Millan; Colleen C Muraresku; Anna C Need; Andrea H Nemeth; Sarah B Neuhaus; Fiona Norwood; Marie O'Donnell; Mary O’Driscoll; Julia Rankin; Sabrina W Yum; Zarazuela Zolkipli-Cunningham; Isabell Brusius; Gilbert Wunderlich; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Clare E H Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim J P Hubbard; Kristina ibáñez; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Samuel C Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R A Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Mert Karakaya; Brunhilde Wirth; Khalid A Fakhro; Homa Tajsharghi; Carsten G Bönnemann; Jenny C Taylor; Henry Houlden
Brain
Brain, 144, 2, pp. 584-600
Brain, 144, 2, pp. 584-600
Academic Journal
Zhongbo Chen; Arianna Tucci; Valentina Cipriani; Emil K Gustavsson; Kristina Ibañez; Regina H Reynolds; David Zhang; Letizia Vestito; Alejandro Cisterna García; Siddharth Sethi; Jonathan W Brenton; Sonia García-Ruiz; Aine Fairbrother-Browne; Ana-Luisa Gil-Martinez; John C Ambrose; Prabhu Arumugam; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Clare E H Craig; Anna de Burca; Andrew Devereau; Greg Elgar; Rebecca E Foulger; Pedro Furió-Tarí; Joanne Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James Holman; Tim J P Hubbard; Rob Jackson; Louise J Jones; Melis Kayikci; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Michael Mueller; Nirupa Murugaesu; Chris A Odhams; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Nick Wood; John A Hardy; Henry Houlden; Juan Botía
Brain
Academic Journal
Kristina Ibañez; James Polke; R Tanner Hagelstrom; Egor Dolzhenko; Dorota Pasko; Ellen Rachel Amy Thomas; Louise C Daugherty; Dalia Kasperaviciute; Katherine R Smith; Ellen M McDonagh; Antonio Rueda; Dimitris Polychronopoulos; Georgia Chan; Heather Angus-Leppan; Kailash P Bhatia; James E Davison; Richard Festenstein; Pietro Fratta; Paola Giunti; Robin Howard; Laxmi Venkata; Matilde Laurá; Meriel McEntagart; Lara Menzies; Huw Morris; Mary M Reilly; Robert Robinson; Elisabeth Rosser; Francesca Faravelli; Anette Schrag; Jonathan M Schott; Thomas T Warner; Nicholas W Wood; David Bourn; Kelly Eggleton; Robyn Labrum; Philip Twiss; Stephen Abbs; Liana Santos; Ghareesa Almheiri; Isabella Sheikh; Jana Vandrovcova; Christine Patch; Ana Lisa Taylor Tavares; Zerin Hyder; Anna Need; Helen Brittain; Emma Baple; Loukas Moutsianas; Viraj Deshpande; Denise L Perry; Subramanian S. Ajay; Aditi Chawla; Vani Rajan; Kathryn Oprych; Patrick F Chinnery; Angela Douglas; Gill Wilson; Sian Ellard; I Karen Temple; Andrew Mumford; Dom McMullan; Kikkeri Naresh; Frances A Flinter; Jenny C Taylor; Lynn Greenhalgh; William Newman; Paul Brennan; John A Sayer; F Lucy Raymond; Lyn S Chitty; Zandra C Deans; Sue Hill; Tom Fowler; Richard H Scott; John Hardy; Henry Houlden; Augusto Rendon; Mark J Caulfield; Michael A Eberle; Ryan J Taft; Arianna Tucci; John C. Ambrose; Prabhu Arumugam; Marta Bleda; Freya Boardman-Pretty; Jeanne M. Boissiere; Christopher R. Boustred; Clare E.H. Craig; Anna de Burca; Andrew Devereau; Greg Elgar; Rebecca E. Foulger; Pedro Furió-Tarí; Joanne Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James Holman; Tim J.P. Hubbard; Rob Jackson; Louise J. Jones; Melis Kayikci; Lea Lahnstein; Kay Lawson; Sarah E.A. Leigh; Ivonne U.S. Leong; Javier F. Lopez; Fiona Maleady-Crowe; Joanne Mason; Michael Mueller; Nirupa Murugaesu; Chris A. Odhams; Daniel Perez-Gil; John Pullinger; Tahrima Rahim; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Alona Sosinsky; William Spooner; Helen E. Stevens; Alexander Stuckey; Razvan Sultana; Simon R. Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A. Watters; Matthew J. Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M. Wood; Magdalena Zarowiecki
Lancet Neurol
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WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2
Academic Journal
Adeleye, Adelani; Alba, Camille; Bacikova, Dagmar; Hupalo, Daniel N.; Martinez, Elisa McGrath; Pollard, Harvey B.; Sukumar, Gauthaman; Soltis, Anthony R.; Tuck, Meila; Zhang, Xijun; Wilkerson, Matthew D.; Smith, Bradley N.; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D.; Kost, Jason; Scotter, Emma L.; Kenna, Kevin P.; Miller, Jack W.; Tiloca, Cinzia; Vance, Caroline; Danielson, Eric W.; Troakes, Claire; Colombrita, Claudia; Al-Sarraj, Safa; Lewis, Elizabeth A.; King, Andrew; Calini, Daniela; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L.M.A.; Sapp, Peter C.; McKenna-Yasek, Diane; McLaughlin, Russell L.; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, José Luis; Stevic, Zorica; D’Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Diekstra, Frank P.; Rademakers, Rosa; van Blitterswijk, Marka; 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In Neuron 3 February 2021 109(3):448-460
Academic Journal
Parry, David A. ; Martin, Carol-Anne ; Greene, Philip ; Marsh, Joseph A. ; Ambrose, J.C. ; Arumugam, P. ; Baple, E.L. ; Bleda, M. ; Boardman-Pretty, F. ; Boissiere, J.M. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Craig, C.E.H. ; Daugherty, L.C. ; de Burca, A. ; Devereau, A. ; Elgar, G. ; Foulger, R.E. ; Fowler, T. ; Furió-Tarí, P. ; Giess, A. ; Hackett, J.M. ; Halai, D. ; Hamblin, A. ; Henderson, S. ; Holman, J.E. ; Hubbard, T.J.P. ; Ibáñez, K. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Lawson, K. ; 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. ; Need, A.C. ; Odhams, C.A. ; Orioli, A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Polychronopoulos, D. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Riesgo-Ferreiro, P. ; Rogers, T. ; Ryten, M. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K.R. ; Smith, S.C. ; Sosinsky, A. ; Spooner, W. ; Stevens, H.E. ; Stuckey, A. ; Sultana, R. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tregidgo, C. ; Tucci, A. ; Walsh, E. ; Watters, S.A. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Zarowiecki, M. ; Blyth, Moira ; Cox, Helen ; Donnelly, Deirdre ; Greenhalgh, Lynn ; Greville-Heygate, Stephanie ; Harrison, Victoria ; Lachlan, Katherine ; McKenna, Caoimhe ; Quigley, Alan J. ; Rea, Gillian ; Robertson, Lisa ; Suri, Mohnish ; Jackson, Andrew P.
In Genetics in Medicine February 2021 23(2):408-414
Academic Journal
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 ; Ambrose, J.C. ; Arumugam, P. ; Baple, E.L. ; Bleda, M. ; Boardman-Pretty, F. ; Boissiere, J.M. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Craig, C.E.H. ; Daugherty, L.C. ; de Burca, A. ; Devereau, A. ; Elgar, G. ; Foulger, R.E. ; Fowler, T. ; Furió-Tarí, P. ; Hackett, J.M. ; Halai, D. ; Hamblin, A. ; Henderson, S. ; Holman, J.E. ; Hubbard, T.J.P. ; Ibáñez, K. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Lahnstein, L. ; Lawson, K. ; 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. ; Need, A.C. ; Odhams, C.A. ; 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.H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K.R. ; Sosinsky, A. ; Spooner, W. ; Stevens, H.E. ; Stuckey, A. ; Sultana, R. ; Thomas, E.R.A. ; Thompson, S.R. ; Tregidgo, C. ; Tucci, A. ; Walsh, E. ; Watters, S.A. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Zarowiecki, M. ; 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
In Genetics in Medicine December 2020 22(12):2041-2051
Academic Journal
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In The American Journal of Human Genetics 4 June 2020 106(6):830-845
Academic Journal
Silvennoinen, Katri; Puvirajasinghe, Clinda; Hudgell, Kirsty; Sidhu, Meneka K.; Custodio, Helena Martins; Jones, Wendy D.; Balestrini, Simona; Sisodiya, Sanjay M.; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman‐Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; De Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió‐Tarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; 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.; Need, A.C.; Odhams, C.A.; 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.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.
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Nature
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Sci Rep
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Scientific Reports
Academic Journal
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Universitat Politècnica de Catalunya (UPC)
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Universitat Politècnica de Catalunya (UPC)
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Academic Journal
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