학술논문
'학술논문'
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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
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
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, Céline; Vulto-van Silfhout, Anneke T; 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; Annerén, Göran; Fichera, Marco; Bosco, Paolo; Romano, Corrado
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
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; 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, Frederick A.; van Haelst, Mieke M.; Campeau, Philippe M.
Academic Journal
Kirk, Edwin P.; Ong, Royston; Boggs, Kirsten; Hardy, Tristan; Righetti, Sarah; Ben Kamien; 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.
Academic Journal
Mattiske, Tessa; Moey, Ching; Vissers, Lisenka E.; Thorne, Natalie; Georgeson, Peter; Bakshi, Madhura; Shoubridge, Cheryl
Human Mutation; May2017, Vol. 38 Issue 5, p548-555, 8p
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
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