학술논문
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'학술논문'
에서 검색결과 48건 | 목록
1~20
Academic Journal
Viorica Chelban; Henriette Aksnes; Reza Maroofian; Lauren C. LaMonica; Luis Seabra; Anette Siggervåg; Perrine Devic; Hanan E. Shamseldin; Jana Vandrovcova; David Murphy; Anne-Claire Richard; Olivier Quenez; Antoine Bonnevalle; M. Natalia Zanetti; Rauan Kaiyrzhanov; Vincenzo Salpietro; Stephanie Efthymiou; Lucia V. Schottlaender; Heba Morsy; Annarita Scardamaglia; Ambreen Tariq; Alistair T. Pagnamenta; Ajia Pennavaria; Liv S. Krogstad; Åse K. Bekkelund; Alessia Caiella; Nina Glomnes; Kirsten M. Brønstad; Sandrine Tury; Andrés Moreno De Luca; Anne Boland-Auge; Robert Olaso; Jean-François Deleuze; Mathieu Anheim; Benjamin Cretin; Barbara Vona; Fahad Alajlan; Firdous Abdulwahab; Jean-Luc Battini; Rojan İpek; Peter Bauer; Giovanni Zifarelli; Serdal Gungor; Semra Hiz Kurul; Hanns Lochmuller; Sahar I. Da’as; Khalid A. Fakhro; Alicia Gómez-Pascual; Juan A. Botía; Nicholas W. Wood; Rita Horvath; Andreas M. Ernst; James E. Rothman; Meriel McEntagart; Yanick J. Crow; Fowzan S. Alkuraya; Gaël Nicolas; SYNaPS Study Group; Thomas Arnesen; Henry Houlden
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Academic Journal
Alistair T. Pagnamenta; Carme Camps; Edoardo Giacopuzzi; John M. Taylor; Mona Hashim; Eduardo Calpena; Pamela J. Kaisaki; Akiko Hashimoto; Jing Yu; Edward Sanders; Ron Schwessinger; Jim R. Hughes; Gerton Lunter; Helene Dreau; Matteo Ferla; Lukas Lange; Yesim Kesim; Vassilis Ragoussis; Dimitrios V. Vavoulis; Holger Allroggen; Olaf Ansorge; Christian Babbs; Siddharth Banka; Benito Baños-Piñero; David Beeson; Tal Ben-Ami; David L. Bennett; Celeste Bento; Edward Blair; Charlotte Brasch-Andersen; Katherine R. Bull; Holger Cario; Deirdre Cilliers; Valerio Conti; E. Graham Davies; Fatima Dhalla; Beatriz Diez Dacal; Yin Dong; James E. Dunford; Renzo Guerrini; Adrian L. Harris; Jane Hartley; Georg Hollander; Kassim Javaid; Maureen Kane; Deirdre Kelly; Dominic Kelly; Samantha J. L. Knight; Alexandra Y. Kreins; Erika M. Kvikstad; Craig B. Langman; Tracy Lester; Kate E. Lines; Simon R. Lord; Xin Lu; Sahar Mansour; Adnan Manzur; Reza Maroofian; Brian Marsden; Joanne Mason; Simon J. McGowan; Davide Mei; Hana Mlcochova; Yoshiko Murakami; Andrea H. Németh; Steven Okoli; Elizabeth Ormondroyd; Lilian Bomme Ousager; Jacqueline Palace; Smita Y. Patel; Melissa M. Pentony; Chris Pugh; Aboulfazl Rad; Archana Ramesh; Simone G. Riva; Irene Roberts; Noémi Roy; Outi Salminen; Kyleen D. Schilling; Caroline Scott; Arjune Sen; Conrad Smith; Mark Stevenson; Rajesh V. Thakker; Stephen R. F. Twigg; Holm H. Uhlig; Richard van Wijk; Barbara Vona; Steven Wall; Jing Wang; Hugh Watkins; Jaroslav Zak; Anna H. Schuh; Usha Kini; Andrew O. M. Wilkie; Niko Popitsch; Jenny C. Taylor
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Stephanie Efthymiou; Luiz E. Novis; Georgios Koutsis; Chrysoula Koniari; Reza Maroofian; Valentina Turchetti; Georgios Velonakis; Luiz F. Vasconcellos; Salmo Raskin; Varunvenkat M. Srinivasan; Alistair T. Pagnamenta; Yaramanchanahalli B. Arun; Uddhava V. Kinhal; Vykuntaraju K. Gowda; Helio A. G. Teive; Henry Houlden
Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1910-1916 (2023)
Academic Journal
Hannah E. Roberts; Maria Lopopolo; Alistair T. Pagnamenta; Eshita Sharma; Duncan Parkes; Lorne Lonie; Colin Freeman; Samantha J. L. Knight; Gerton Lunter; Helene Dreau; Helen Lockstone; Jenny C. Taylor; Anna Schuh; Rory Bowden; David Buck
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Academic Journal
Ryan M. Baxley; Wendy Leung; Megan M. Schmit; Jacob Peter Matson; Lulu Yin; Marissa K. Oram; Liangjun Wang; John Taylor; Jack Hedberg; Colette B. Rogers; Adam J. Harvey; Debashree Basu; Jenny C. Taylor; Alistair T. Pagnamenta; Helene Dreau; Jude Craft; Elizabeth Ormondroyd; Hugh Watkins; Eric A. Hendrickson; Emily M. Mace; Jordan S. Orange; Hideki Aihara; Grant S. Stewart; Edward Blair; Jeanette Gowen Cook; Anja-Katrin Bielinsky
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Academic Journal
Wei Wei; Alistair T. Pagnamenta; Nicholas Gleadall; Alba Sanchis-Juan; Jonathan Stephens; John Broxholme; Salih Tuna; Christopher A. Odhams; Genomics England Research Consortium; NIHR BioResource; Carl Fratter; Ernest Turro; Mark J. Caulfield; Jenny C. Taylor; Shamima Rahman; Patrick F. Chinnery
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Academic Journal
Saki Aoto; Saki Katagiri; Yi Wang; Alistair T. Pagnamenta; Rie Sakamoto-Abutani; Masashi Toyoda; Akihiro Umezawa; Kohji Okamura
Stem Cell Research & Therapy, Vol 10, Iss 1, Pp 1-9 (2019)
Academic Journal
John Taylor; Jude Craft; Edward Blair; Sarah Wordsworth; David Beeson; Saleel Chandratre; Judith Cossins; Tracy Lester; Andrea H. Németh; Elizabeth Ormondroyd; Smita Y. Patel; Alistair T. Pagnamenta; Jenny C. Taylor; Kate L. Thomson; Hugh Watkins; Andrew O. M. Wilkie; Julian C. Knight
Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
Academic Journal
Rory Bowden; Robert W. Davies; Andreas Heger; Alistair T. Pagnamenta; Mariateresa de Cesare; Laura E. Oikkonen; Duncan Parkes; Colin Freeman; Fatima Dhalla; Smita Y. Patel; Niko Popitsch; Camilla L. C. Ip; Hannah E. Roberts; Silvia Salatino; Helen Lockstone; Gerton Lunter; Jenny C. Taylor; David Buck; Michael A. Simpson; Peter Donnelly
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Academic Journal
Adrian M. Shields; Alistair T. Pagnamenta; Andrew J. Pollard; OxClinWGS; Jenny C. Taylor; Holger Allroggen; Smita Y. Patel; Samantha J. L. Knight; Niko Popitsch; Carme Camps; Melissa M. Pentony; Erika M. Kvikstad; Lukas Lange; Mona Hashim; Steve Harris; Mark Tilley; Dimitris Vavoulis; Pamela Kaisaki; Vassilis Ragoussis; Matteo Feral
Frontiers in Immunology, Vol 10 (2019)
Academic Journal
Wei Wei; Alistair T. Pagnamenta; Nicholas Gleadall; Alba Sanchis-Juan; Jonathan Stephens; John Broxholme; Salih Tuna; Christopher A. Odhams; Genomics England Research Consortium; NIHR BioResource; Carl Fratter; Ernest Turro; Mark J. Caulfield; Jenny C. Taylor; Shamima Rahman; Patrick F. Chinnery
Nature Communications, Vol 11, Iss 1, Pp 1-2 (2020)
Academic Journal
Matilda A. Haas; Linh Ngo; Shan Shan Li; Sibylle Schleich; Zhengdong Qu; Hannah K. Vanyai; Hayley D. Cullen; Aida Cardona-Alberich; Ivan E. Gladwyn-Ng; Alistair T. Pagnamenta; Jenny C. Taylor; Helen Stewart; Usha Kini; Kent E. Duncan; Aurelio A. Teleman; David A. Keays; Julian I.-T. Heng
Cell Reports, Vol 15, Iss 10, Pp 2251-2265 (2016)
Academic Journal
Rebecca Buchert; Martin D. Burkhalter; Chrisovalantou Huridou; Linda Sofan; Timo Roser; Kirsten Cremer; Javeria Raza Alvi; Stephanie Efthymiou; Tawfiq Froukh; Sughra Gulieva; Ulviyya Guliyeva; Moath Hamdallah; Muriel Holder-Espinasse; Rauan Kaiyrzhanov; Doreen Klingler; Mahmoud Koko; Lars Matthies; Joohyun Park; Marc Sturm; Ana Velic; Stephanie Spranger; Tipu Sultan; Hartmut Engels; Holger Lerche; Henry Houlden; Alistair T. Pagnamenta; Ingo Borggraefe; Yvonne Weber; Penelope E. Bonnen; Reza Maroofian; Olaf Riess; Jonasz J. Weber; Melanie Philipp; Tobias B. Haack
Am J Hum Genet
Academic Journal
Prasun Dutta; Alistair T. Pagnamenta; Christelle Robert; Anthony E. F. McGuigan; Alison Ross; Edward S. Tobias; Ruth McGowan; Morad Ansari; David Baty; Jonathan Berg; Therese Bradley; Vera Cerqueira; Austin Diamond; Mihail Halachev; Anne Lampe; Alison Meynert; Caitlin Newman; Marian Thomson; Urmi Trivedi; Nicola Williams; Jing Yu; Javier Santoyo-Lopez; Zosia Miedzybrodzka; Jenny C. Taylor; Timothy J. Aitman
Academic Journal
Alistair T. Pagnamenta; Jing Yu; Susan Walker; Alexandra J. Noble; Jenny Lord; Prasun Dutta; Mona Hashim; Carme Camps; Hannah Green; Smrithi Devaiah; Lina Nashef; Jason Parr; Carl Fratter; Rana Ibnouf Hussein; Sarah J. Lindsay; Fiona Lalloo; Benito Banos-Pinero; David Evans; Lucy Mallin; Adrian Waite; Julie Evans; Andrew Newman; Zoe Allen; Cristina Perez-Becerril; Gavin Ryan; Rachel Hart; John Taylor; Tina Bedenham; Emma Clement; Ed Blair; Eleanor Hay; Francesca Forzano; Jenny Higgs; Natalie Canham; Anirban Majumdar; Meriel McEntagart; Nayana Lahiri; Helen Stewart; Sarah Smithson; Eduardo Calpena; Adam Jackson; Siddharth Banka; Hannah Titheradge; Ruth McGowan; Julia Rankin; Charles Shaw-Smith; D. Gareth Evans; George J. Burghel; Miriam J. Smith; Emily Anderson; Rajesh Madhu; Helen Firth; Sian Ellard; Paul Brennan; Claire Anderson; Doug Taupin; Mark T. Rogers; Jackie A. Cook; Miranda Durkie; James E. East; Darren Fowler; Louise Wilson; Rebecca Igbokwe; Alice Gardham; Ian Tomlinson; Diana Baralle; Holm H. Uhlig; Jenny C. Taylor
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Pagnamenta, A T, Walker, S, Noble, A J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lalloo, F, Waite, A, Evans, J, Allen, Z, Perez-Becerril, C, Hart, R, Taylor, J, Bedenham, T, Clement, E, Blair, E, Hay, E, Forzano, F, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J, Shaw-Smith, C, Evans, D G, Burghel, G J, Smith, M J, Anderson, E, Madhu, R, Firth, H, Ellard, S, Brennan, P, Taupin, D, Rogers, M T, Cook, J A, Durkie, M, East, J E, Fowler, D, Wilson, L, Igbokwe, R, Gardham, A, Tomlinson, I, Baralle, D, Uhlig, H H & Taylor, J C 2024, 'The impact of inversions across 33,924 families with rare disease from a national genome sequencing project', American Journal of Human Genetics, vol. 111, no. 6, pp. 1140-1164. https://doi.org/10.1016/j.ajhg.2024.04.018
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Pagnamenta, A T, Walker, S, Noble, A J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lalloo, F, Waite, A, Evans, J, Allen, Z, Perez-Becerril, C, Hart, R, Taylor, J, Bedenham, T, Clement, E, Blair, E, Hay, E, Forzano, F, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J, Shaw-Smith, C, Evans, D G, Burghel, G J, Smith, M J, Anderson, E, Madhu, R, Firth, H, Ellard, S, Brennan, P, Taupin, D, Rogers, M T, Cook, J A, Durkie, M, East, J E, Fowler, D, Wilson, L, Igbokwe, R, Gardham, A, Tomlinson, I, Baralle, D, Uhlig, H H & Taylor, J C 2024, 'The impact of inversions across 33,924 families with rare disease from a national genome sequencing project', American Journal of Human Genetics, vol. 111, no. 6, pp. 1140-1164. https://doi.org/10.1016/j.ajhg.2024.04.018
Academic Journal
Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; 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 Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter 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; 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; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; 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; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; 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; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. 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; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner
Am. J. Hum. Genet. 111, 96-118 (2024)
Academic Journal
Valentina Cipriani; Letizia Vestito; Emma F. Magavern; Julius O. B. Jacobsen; Gavin Arno; Elijah R. Behr; Katherine A. Benson; Marta Bertoli; Detlef Bockenhauer; Michael R. Bowl; Kate Burley; Li F. Chan; Patrick Chinnery; Peter J. Conlon; Marcos A. Costa; Alice E. Davidson; Sally J. Dawson; Elhussein A. E. Elhassan; Sarah E. Flanagan; Marta Futema; Daniel P. Gale; Sonia García-Ruiz; Cecilia Gonzalez Corcia; Helen R. Griffin; Sophie Hambleton; Amy R. Hicks; Henry Houlden; Richard S. Houlston; Sarah A. Howles; Robert Kleta; Iris Lekkerkerker; Siying Lin; Petra Liskova; Hannah H. Mitchison; Heba Morsy; Andrew D. Mumford; William G. Newman; Ruxandra Neatu; Edel A. O’Toole; Albert C. M. Ong; Alistair T. Pagnamenta; Shamima Rahman; Neil Rajan; Peter N. Robinson; Mina Ryten; Omid Sadeghi-Alavijeh; John A. Sayer; Claire L. Shovlin; Jenny C. Taylor; Omri Teltsh; Ian Tomlinson; Arianna Tucci; Clare Turnbull; Albertien M. van Eerde; James S. Ware; Laura M. Watts; Andrew R. Webster; Sarah K. Westbury; Sean L. Zheng; Mark Caulfield; Damian Smedley
Cipriani, V, Vestito, L, Magavern, E F, Jacobsen, J O B, Arno, G, Behr, E R, Benson, K A, Bertoli, M, Bockenhauer, D, Bowl, M R, Burley, K, Chan, L F, Chinnery, P, Conlon, P J, Costa, M A, Davidson, A E, Dawson, S J, Elhassan, E A E, Flanagan, S E, Futema, M, Gale, D P, Garcia-Ruiz, S, Corcia, C G, Griffin, H R, Hambleton, S, Hicks, A R, Houlden, H, Houlston, R S, Howles, S A, Kleta, R, Lekkerkerker, I, Lin, S, Liskova, P, Mitchison, H H, Morsy, H, Mumford, A D, Newman, W G, Neatu, R, O'Toole, E A, Ong, A C M, Pagnamenta, A T, Rahman, S, Rajan, N, Robinson, P N, Ryten, M, Sadeghi-Alavijeh, O, Sayer, J A, Shovlin, C L, Taylor, J C, Teltsh, O, Tomlinson, I, Tucci, A, Turnbull, C, van Eerde, A M, Ware, J S, Watts, L M, Webster, A R, Westbury, S K, Zheng, S L, Caulfield, M & Smedley, D 2025, 'Rare disease gene association discovery in the 100,000 Genomes Project', Nature. https://doi.org/10.1038/s41586-025-08623-w
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea A. Weiss; Christina A. Gurnett; Anne Marie Jelsig; Susanne H. Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair T. Pagnamenta; Simone Race; Siddharth Srivastava; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda M. Reis; Elena V. Semina; Miriam S. Reuter; Stephen W. Scherer; Maria Iascone; Denisa Weis; Christina R. Fagerberg; Charlotte Brasch-Andersen; Lars Kjaersgaard Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias B. Haack; Despoina C. Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas R. Janecke; Tzung-Chien Hsieh; Hellen Lesmann; Hannah Klinkhammer; Peter M. Krawitz; Johannes R. Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Academic Journal
Ruizhi Deng; Eva Medico-Salsench; Anita Nikoncuk; Reshmi Ramakrishnan; Kristina Lanko; Nikolas A. Kühn; Herma C. van der Linde; Sarah Lor-Zade; Fatimah Albuainain; Yuwei Shi; Soheil Yousefi; Ivan Capo; Evita Medici van den Herik; Marjon van Slegtenhorst; Rick van Minkelen; Geert Geeven; Monique T. Mulder; George J. G. Ruijter; Dieter Lütjohann; Edwin H. Jacobs; Henry Houlden; Alistair T. Pagnamenta; Kay Metcalfe; Adam Jackson; Siddharth Banka; Lenika De Simone; Abigail Schwaede; Nancy Kuntz; Timothy Blake Palculict; Safdar Abbas; Muhammad Umair; Mohammed AlMuhaizea; Dilek Colak; Hanan AlQudairy; Maysoon Alsagob; Catarina Pereira; Roberta Trunzo; Vasiliki Karageorgou; Aida M. Bertoli-Avella; Peter Bauer; Arjan Bouman; Lies H. Hoefsloot; Tjakko J. van Ham; Mahmoud Issa; Maha S. Zaki; Joseph G. Gleeson; Rob Willemsen; Namik Kaya; Stefan T. Arold; Reza Maroofian; Leslie E. Sanderson; Tahsin Stefan Barakat
Acta Neuropathol
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, 'AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368. https://doi.org/10.1007/s00401-023-02579-9, https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathol.
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, 'AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368. https://doi.org/10.1007/s00401-023-02579-9, https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathol.
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[AR] Alistair T. Pagnamenta
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