학술논문
'학술논문'
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1~10
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung; Ljungdahl, Alicia; Stenton, Sarah; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra; Ganesh, Vijay; Ma, Jialan; Ellingford, Jamie; Delage, Erwan; DSouza, Elston; Dong, Shan; Adams, David; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin; Berger, Seth; Bernstein, Jonathan; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha; Burrage, Lindsay; Chapman, Kimberly; Coman, David; Compton, Alison; Cunningham, Chloe; DSouza, Precilla; Danecek, Petr; Délot, Emmanuèle; Dias, Kerith-Rae; Elias, Ellen; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie; Gallacher, Lyndon; Genetti, Casie; Goriely, Anne; Grant, Christina; Haack, Tobias; Higgs, Jenny; Hinch, Anjali; Hurles, Matthew; Kuechler, Alma; Lachlan, Katherine; Lalani, Seema; Lecoquierre, François; Leitão, Elsa; Fevre, Anna; Leventer, Richard; Liebelt, Jan; Lindsay, Sarah; Lockhart, Paul; Ma, Alan; Macnamara, Ellen; Mansour, Sahar; Maurer, Taylor; Mendez, Hector; Metcalfe, Kay; Montgomery, Stephen; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; ODonoghue, Michael; OLeary, Melanie; Palmer, Elizabeth; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi; Reuter, Chloe; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill; Sachdev, Rani; Shaw-Smith, Charles; Simons, Cas; Sisodiya, Sanjay; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen; Tan, Tiong; Tan, Natalie; Temple, Suzanna; Thorburn, David; Tifft, Cynthia; Uebergang, Eloise; VanNoy, Grace; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David
Nature: New biology. 632(8026)
Academic Journal
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
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
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.
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.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):374-383
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
Periodical
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; 20240101, Issue: Preprints p1-9, 9p
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
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