학술논문
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'학술논문'
에서 검색결과 64건 | 목록
1~20
Conference
Bakshi, Madhura Prashant; Chandan, Bandi Venkata; Nigam, Kaushal Kumar; Kumar, Ashish; Tanveer, Adil; Vaddeswarapu, Ashok
2025 10th International Conference on Signal Processing and Communication (ICSC) Signal Processing and Communication (ICSC), 2025 10th International Conference on. :809-813 Feb, 2025
Academic Journal
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo‐Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik‐Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.; Farrar, Michelle A.; Vuillerot, Carole
Ann Neurol
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Venugopal, Parvathy; Arts, Peer; Fox, Lucy C.; Simons, Annet; Hiwase, Devendra K.; Bardy, Peter G.; Swift, Annette; Ross, David M.; van Vulpen, Lize F. D.; Buijs, Arjan; Bolton, Kelly L.; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S. B.; Bournazos, Adam M.; Cooper, Sandra T.; Ha, Thuong Thi; Jackson, Matilda R.; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S.; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P.; Poplawski, Nicola K.; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L.; Hahn, Christopher N.; Scott, Hamish S.
Blood Advances. 8(13):3437-3443
Academic Journal
In Microelectronics Reliability December 2024 163
Academic Journal
Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah ; Evans, Carey-Anne ; O’Heir, Emily ; Zhu, Ying ; Zhang, Futao ; Standen, Krystle ; Weisburd, Ben ; Stenton, Sarah L. ; Sanchis-Juan, Alba ; Brand, Harrison ; Talkowski, Michael E. ; Ma, Alan ; Ghedia, Sondy ; Wilson, Meredith ; Sandaradura, Sarah A. ; Smith, Janine ; Kamien, Benjamin ; Turner, Anne ; Bakshi, Madhura ; Adès, Lesley C. ; Mowat, David ; Regan, Matthew ; McGillivray, George ; Savarirayan, Ravi ; White, Susan M. ; Tan, Tiong Yang ; Stark, Zornitza ; Brown, Natasha J. ; Pérez-Jurado, Luis A. ; Krzesinski, Emma ; Hunter, Matthew F. ; Akesson, Lauren ; Fennell, Andrew Paul ; Yeung, Alison ; Boughtwood, Tiffany ; Ewans, Lisa J. ; Kerkhof, Jennifer ; Lucas, Christopher ; Carey, Louise ; French, Hugh ; Rapadas, Melissa ; Stevanovski, Igor ; Deveson, Ira W. ; Cliffe, Corrina ; Elakis, George ; Kirk, Edwin P. ; Dudding-Byth, Tracy ; Fletcher, Janice ; Walsh, Rebecca ; Corbett, Mark A. ; Kroes, Thessa ; Gecz, Jozef ; Meldrum, Cliff ; Cliffe, Simon ; Wall, Meg ; Lunke, Sebastian ; North, Kathryn ; Amor, David J. ; Field, Michael ; Sadikovic, Bekim ; Buckley, Michael F. ; O’Donnell-Luria, Anne ; Roscioli, Tony
In Genetics in Medicine May 2024 26(5)
Academic Journal
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Verberne, Eline A. ; Goh, Shuxiang ; England, Jade ; van Ginkel, Manon ; Rafael-Croes, Louise ; Maas, Saskia ; Polstra, Abeltje ; Zarate, Yuri A. ; Bosanko, Katherine A. ; Pechter, Kieran B. ; Bedoukian, Emma ; Izumi, Kosuke ; Chaudhry, Ayeshah ; Robin, Nathaniel H. ; Boothe, Megan ; Lippa, Natalie C. ; Aggarwal, Vimla ; De Vivo, Darryl C. ; Lehman, Anna ; Study, Causes ; Stockler, Sylvia ; Bruel, Ange-Line ; Isidor, Bertrand ; Lemons, Jennifer ; Rodriguez-Buritica, David F. ; Richmond, Christopher M. ; Stark, Zornitza ; Agrawal, Pankaj B. ; Kooy, R.Frank ; Meuwissen, Marije E.C. ; Koolen, David A. ; Pfundt, Rolf ; Lieden, Agne ; Anderlid, Britt-Marie ; Glatz, Dagmar ; Mannens, Marcel M.A.M. ; Bakshi, Madhura ; Mallette, Frédérick A. ; van Haelst, Mieke M. ; Campeau, Philippe M.
In Genetics in Medicine February 2021 23(2):374-383
Academic Journal
Oates, Emily; Jones, Kristi; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John; Ware, James; Yau, Kyle; Swanson, Lindsay; Whiffin, Nicola; Peduto, Anthony; Bournazos, Adam; Waddell, Leigh; Farrar, Michelle; Sampaio, Hugo; Teoh, Hooi Ling; Lamont, Phillipa; Mowat, David; Fitzsimons, Robin; Corbett, Alastair; Ryan, Monique; O'Grady, Gina; Sandaradura, Sarah; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie; Nolan, Melinda; Kaur, Simranpreet; Punetha, Jaya; Töpf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne; Foley, a Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne; Gilbreath, Heather; Iannaccone, Susan; Castro, Diana; Cummings, Beryl; Webster, Richard; Lazaro, Leila; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho-Ming; Thomas, Neil; Foulds, Nicola; Illingworth, Marjorie; Ellard, Sian; Mclean, Catriona; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra; Kamsteeg, Erik-Jan; Hoffman, Eric; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn; Clarke, Nigel; Lek, Monkol; Beggs, Alan; Bönnemann, Carsten; Macarthur, Daniel; Granzier, Henk; Davis, Mark; Laing, Nigel; Foley, A. Reghan; Bharucha‐goebel, Diana; Luk, Ho‐ming; Kamsteeg, Erik‐jan
Ann Neurol
Annals of Neurology, 83, 6, pp. 1105-1124
Annals of neurology, 83 (6
Oates, E C, Jones, K J, Donkervoort, S, Charlton, A, Brammah, S, Smith, J E, Ware, J S, Yau, K S, Swanson, L C, Whiffin, N, Peduto, A J, Bournazos, A, Waddell, L B, Farrar, M A, Sampaio, H A, Teoh, H L, Lamont, P J, Mowat, D, Fitzsimons, R B, Corbett, A J, Ryan, M M, O'Grady, G L, Sandaradura, S A, Ghaoui, R, Joshi, H, Marshall, J L, Nolan, M A, Kaur, S, Punetha, J, Töpf, A, Harris, E,Bakshi , M, Genetti, C A, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J R, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M E, Foley, A R, Bharucha-Goebel, D, Collins, J, Connolly, A M, Gilbreath, H R, Iannaccone, S T, Castro, D, Cummings, B B, Webster, R I, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H M, Thomas, N H, Foulds, N C, Illingworth, M A, Ellard, S, McLean, C A, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, S T, Kamsteeg, E J, Hoffman, E P, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, K N, Clarke, N F, Lek, M, Beggs, A H, Bönnemann, C G, MacArthur, D G, Granzier, H, Davis, M R & Laing, N G 2018, ' Congenital Titinopathy : Comprehensive characterization and pathogenic insights ', Annals of Neurology, vol. 83, no. 6, pp. 1105-1124 . https://doi.org/10.1002/ana.25241
Annals of Neurology, 83, 6, pp. 1105-1124
Annals of neurology, 83 (6
Oates, E C, Jones, K J, Donkervoort, S, Charlton, A, Brammah, S, Smith, J E, Ware, J S, Yau, K S, Swanson, L C, Whiffin, N, Peduto, A J, Bournazos, A, Waddell, L B, Farrar, M A, Sampaio, H A, Teoh, H L, Lamont, P J, Mowat, D, Fitzsimons, R B, Corbett, A J, Ryan, M M, O'Grady, G L, Sandaradura, S A, Ghaoui, R, Joshi, H, Marshall, J L, Nolan, M A, Kaur, S, Punetha, J, Töpf, A, Harris, E,
Academic Journal
Kirk, Edwin P.; Ong, Royston; Boggs, Kirsten; Hardy, Tristan; Righetti, Sarah; Kamien, Ben; Roscioli, Tony; Amor, David J.; Bakshi, Madhura; Chung, Clara W. T.; Colley, Alison; Jamieson, Robyn V.; Liebelt, Jan; Ma, Alan; Pachter, Nicholas; Rajagopalan, Sulekha; Ravine, Anja; Wilson, Meredith; Caruana, Jade; Casella, Rachael; Davis, Mark; Edwards, Samantha; Archibald, Alison; McGaughran, Julie; Newson, Ainsley J.; Laing, Nigel G.; Delatycki, Martin B.
European Journal of Human Genetics. 29(1):79-87
Academic Journal
Rohrbach, Marianne ; Spencer, Helen L. ; Porter, Louise F. ; Burkitt-Wright, Emma M.M. ; Bürer, Céline ; Janecke, Andreas ; Bakshi, Madhura ; Sillence, David ; Al-Hussain, Hailah ; Baumgartner, Matthias ; Steinmann, Beat ; Black, Graeme C.M. ; Manson, Forbes D.C. ; Giunta, Cecilia
In Molecular Genetics and Metabolism July 2013 109(3):289-295
Academic Journal
Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGregor, Lesley; Mittal, Namita; Moghimi, Ali; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui; Brd Inst Ctr Mendelian Genomics; Genomic Autopsy Study Res Network
Academic Journal
Helsmoortel, Celine; Silfhout, Anneke T. Vulto-van; Coe, Bradley P.; Vandeweyer, Geert; Rooms, Liesbeth; van den Ende, Jenneke; Schuurs-Hoeijmakers, Janneke H.M.; Marcelis, Carlo L.; Willemsen, Marjolein H.; Vissers, Lisenka E.L.M.; Yntema, Helger G.; Bakshi, Madhura; Wilson, Meredith; Witherspoon, Kali T.; Malmgren, Helena; Nordgren, Ann; Anneren, Goran; Fichera, Marco; Bosco, Paolo; Romano, Corrado; de Vries, Bert B.A.; Kleefstra, Tjitske; Kooy, R. Frank; Van der Aa, Nathalie; Eichler, Evan E.
Nature Genetics. April 1, 2014, Vol. 46 Issue 4, p380, 6 p.
Academic Journal
Vandeweyer, Geert; Helsmoortel, Céline; Van Dijck, Anke; Vulto-van Silfhout, Anneke T.; Coe, Bradley P.; Bernier, Raphael; Gerdts, Jennifer; Rooms, Liesbeth; van den Ende, Jenneke; Bakshi, Madhura; Wilson, Meredith; Nordgren, Ann; Hendon, Laura G.; Abdulrahman, Omar A.; Romano, Corrado; de Vries, Bert B.A.; Kleefstra, Tjitske; Eichler, Evan E.; Van der Aa, Nathalie; Kooy, Frank R.
American Journal Of Medical Genetics - C. Sep 01, 2014 166(3):315-326
Academic Journal
Practical Neurology. :pn-2025
Academic Journal
Yuyang Chen; Ruebena Dawes; Hyung Chul Kim; Sarah L Stenton; Susan Walker; Alicia Ljungdahl; Jenny Lord; Vijay S Ganesh; Jialan Ma; Alexandra C Martin-Geary; Gabrielle Lemire; Elston N D’Souza; Shan Dong; Jamie M Ellingford; David R Adams; Kirsten Allan; Madhura Bakshi; Erin E Baldwin; Seth I Berger; Jonathan A Bernstein; Natasha J Brown; Lindsay C Burrage; Kimberly Chapman; Alison G Compton; Chloe A Cunningham; Precilla D’Souza; Emmanuèle C Délot; Kerith-Rae Dias; Ellen R Elias; Carey-Anne Evans; Lisa Ewans; Kimberly Ezell; Jamie L Fraser; Lyndon Gallacher; Casie A Genetti; Christina L Grant; Tobias Haack; Alma Kuechler; Seema R Lalani; Elsa Leitão; Anna Le Fevre; Richard J Leventer; Jan E Liebelt; Paul J Lockhart; Alan S Ma; Ellen F Macnamara; Taylor M Maurer; Hector R Mendez; Stephen B Montgomery; Marie-Cécile Nassogne; Serena Neumann; Melanie O’Leary; Elizabeth E Palmer; John Phillips; Georgia Pitsava; Ryan Pysar; Heidi L Rehm; Chloe M Reuter; Nicole Revencu; Angelika Riess; Rocio Rius; Lance Rodan; Tony Roscioli; Jill A Rosenfeld; Rani Sachdev; Cas Simons; Sanjay M Sisodiya; Penny Snell; Laura St Clair; Zornitza Stark; Tiong Yang Tan; Natalie B Tan; Suzanna EL Temple; David R Thorburn; Cynthia J Tifft; Eloise Uebergang; Grace E VanNoy; Eric Vilain; David H Viskochil; Laura Wedd; Matthew T Wheeler; Susan M White; Monica Wojcik; Lynne A Wolfe; Zoe Wolfenson; Changrui Xiao; David Zocche; John L Rubenstein; Eirene Markenscoff-Papadimitriou; Sebastian M Fica; Diana Baralle; Christel Depienne; Daniel G MacArthur; Joanna MM Howson; Stephan J Sanders; Anne O’Donnell-Luria; Nicola Whiffin
medRxiv
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K,Bakshi , M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B, Nassogne, M-C, Neumann, S, O'Leary, M, Palmer, E E, Phillips, J, Pitsava, G, Pysar, R, Rehm, H L, Reuter, C M, Revencu, N, Riess, A, Rius, R, Rodan, L, Roscioli, T, Rosenfeld, J A, Sachdev, R, Simons, C, Sisodiya, S M, Snell, P, Clair, L S, Stark, Z, Tan, T Y, Tan, N B, Temple, S E, Thorburn, D R, Tifft, C J, Uebergang, E, VanNoy, G E, Vilain, E, Viskochil, D H, Wedd, L, Wheeler, M T, White, S M, Wojcik, M, Wolfe, L A, Wolfenson, Z, Xiao, C, Zocche, D, Rubenstein, J L, Markenscoff-Papadimitriou, E, Fica, S M, Baralle, D, Depienne, C, MacArthur, D G, Howson, J M, Sanders, S J, O'Donnell-Luria, A & Whiffin, N 2024, 'De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.', medRxiv. https://doi.org/10.1101/2024.04.07.24305438
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K,
Academic Journal
Alicia B. Byrne; Peer Arts; Thuong T. Ha; Karin S. Kassahn; Lynn S. Pais; Anne O’Donnell-Luria; François Aguet; Harindra M. Arachchi; Christina A. Austin-Tse; Larry Babb; Samantha M. Baxter; Harrison Brand; Jaime Chang; Katherine R. Chao; Ryan L. Collins; Beryl Cummings; Kayla Delano; Stephanie P. DiTroia; Eleina England; Emily Evangelista; Selin Everett; Laurent C. Francioli; Jack Fu; Vijay S. Ganesh; Kiran V. Garimella; Laura D. Gauthier; Julia K. Goodrich; Sanna Gudmundsson; Stacey J. Hall; Yongqing Huang; Steve Jahl; Kristen M. Laricchia; Kathryn E. Larkin; Monkol Lek; Gabrielle Lemire; Rachel B. Lipson; Alysia Kern Lovgren; Daniel G. MacArthur; Brian E. Mangilog; Stacy Mano; Jamie L. Marshall; Thomas E. Mullen; Kevin K. Nguyen; Emily O’Heir; Melanie C. O’Leary; Ikeoluwa A. Osei-Owusu; Jorge Perez de Acha Chavez; Emma Pierce-Hoffman; Heidi L. Rehm; Jillian Serrano; Moriel Singer-Berk; Hana Snow; Matthew Solomonson; Rachel G. Son; Abigail Sveden; Michael Talkowski; Grace Tiao; Miriam S. Udler; Zaheer Valivullah; Elise Valkanas; Grace E. VanNoy; Qingbo S. Wang; Nicholas A. Watts; Ben Weisburd; Clara E. Williamson; Michael W. Wilson; Lauren Witzgall; Monica H. Wojcik; Isaac Wong; Jordan C. Wood; Shifa Zhang; Milena Babic; Mahalia S. B. Frank; Jinghua Feng; Paul Wang; David M. Lawrence; Leila Eshraghi; Luis Arriola; John Toubia; Hung Nguyen; Disna Abeysuriya; Lesley C. Ades; David J. Amor; Susan Arbuckle; Madhura Bakshi; Bligh Berry; Tiffany Boughtwood; Adam Bournazos; Alessandra Bray; Fiona Chan; Yuen Chan; Clara Chung; Jonathan Clark; Jackie Collett; Alison Colley; Felicity Collins; Sandra Cooper; Mark A. Corbett; Jane E. Dahlstrom; Peter Dargaville; Janene Davies; Tenielle Davis; Jarrad Dearman; Jayanthi Dissanayake; Julia Dobbins; Helen Doyle; Andrew Dubowsky; Matt Edwards; Lisa J. Ewans; Mitali Fadia; Andrew Fennell; Keri Finlay; Andrew French; Kathryn Friend; Alison E. Gardner; Jozef Gecz; Nicole Graf; Eric A. Haan; Georgina Hollingsworth; Ari E. Horton; Denise Howting; Matthew F. Hunter; Gareth Jevon; Benjamin Kamien; Debra Kennedy; T. Yee Khong; Michael Krivanek; Thessa Kroes; Emma I. Krzesinski; Edward Kwan; Stephanie Lau; Shannon LeBlanc; Jan Liebelt; Suzanna Lindsey-Temple; Christine K. C. Loo; Julia Low; Amali Mallawaarachchi; Admire Matsika; Tessa Mattiske; Julie McGaughran; Lesley McGregor; Namita Mittal; Ali Moghimi; Lynette Moore; Hatice Mutlu Albayrak; Jessica Ng; Jillian Nicholl; Nicholas Pachter; John Papadimitriou; Renae Parker; Sarah Parsons; Chirag Patel; Rhonda Pawlowski; Luis A. Perez-Jurado; Jason R. Pinner; Katerina Politis; Cathryn Poulton; Theresa Power; Michael Quinn; Sulekha Rajagopalan; Matthew Regan; Jonathan Rodgers; Steuart Rorke; Rani Sachdev; Suzanne Sallevelt; Sarah A. Sandaradura; Maryam Shamassi; Roshan Shamon; Isabella Sherburn; Jennie Slee; Annalisa Solinas; Ella Sugo; Elizabeth Thompson; Sagarika Tripathy; Anand Vasudevan; Melisa Vazquez; Kunal Verma; Mthulisi Viki; Mathew Wallis; Dani L. Webber; Martin Weber; Karen Whale; Meredith Wilson; Lisa Worgan; Sui Yu; George McGillivray; Jason Pinner; Fiona McKenzie; Rebecca Morrow; Jill Lipsett; Nick Manton; Jan E. Liebelt; Andreas W. Schreiber; Sarah L. King-Smith; Tristan S. E. Hardy; Matilda R. Jackson; Christopher P. Barnett; Hamish S. Scott
Nature Medicine. 30:302-302
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