학술논문
'학술논문'
에서 검색결과 32건 | 목록
1~10
Academic Journal
Rachel Austin; Jaye S. Brown; Sarah Casauria; Evanthia O. Madelli; Tessa Mattiske; Tiffany Boughtwood; Alejandro Metke; Andrew Davis; Ari E. Horton; David Winlaw; Debjani Das; Magdalena Soka; Eleni Giannoulatou; Emma M. Rath; Eric Haan; Gillian M. Blue; Jitendra Vohra; John J. Atherton; Karin van Spaendonck-Zwarts; Kathy Cox; Leslie Burnett; Mathew Wallis; Matilda Haas; Michael C.J. Quinn; Nicholas Pachter; Nicola K. Poplawski; Zornitza Stark; Richard D. Bagnall; Robert G. Weintraub; Sarah-Jane Pantaleo; Sebastian Lunke; Paul De Fazio; Tina Thompson; Paul James; Yuchen Chang; Diane Fatkin; Ivan Macciocca; Jodie Ingles; Sally L. Dunwoodie; Chris Semsarian; Julie McGaughran; Lesley Ades; Annabel Enriquez; Alison McLean; Renee Smyth; Dimithu Alankarage; James McNamara; Morgan almog; Vanessa Fear; Caroline Medi; Mohammad Al-Shinnag; Miriam Fine; Raymond Sy; Keri Finlay; Di Milnes; Dotti Tang; Denisse Garza; Michael Milward; Jessica Taylor; Ansley Morrish; Shelby Taylor; Chris Barnett; Laura Gongolidis; Jim Morwood; Michel Tchan; Belinda Gray; Helen Mountain; Simon Bodek; Cassie Greer; David Mowat; Jordan Thorpe; Kirsten Boggs; Chai-Ann Ng; Alison Trainer; Michael Bogwitz; Mathilda Haas; Natalie Nowak; Gunjan Trivedi; Bernadette Hanna; Noelia Nunez Martinez; Giulia Valente; Alessandra Bray; Richard Harvey; Monique Ohanian; Marie-Jo Brion; Janette Hayward; Sinead O’Sullivan; Jamie Vandenberg; Jaye Brown; Carmen Herrera; Angela Overkov; Kunal Verma; Rob Bryson Richardson; Adam Hill; Miranda Vidgen; Georgie Hollingsworth; Chirag Patel; Charlotte Burns; Georgina Hollway; Mark Perrin; Kathryn Waddel-Smith; Michelle Cao; Matthew Perry; Will Carr; Denise Howting; Andreas Pflaumer; Peta Phillips; Meredith Wilson; Heather Chalinor; Joanne Isbister; Thuan Phuong; Matilda Jackson; Rachel Pope-Couston; Lisa Worgan; Gavin Chapman; Linda Wornham; Theosodia Charitou; Sarah Jane-Pantaleo; Preeti Punni; Kathy Wu; Belinda Chong; Renee Johnson; Laura Yeates; Felicity Collins; Andrew Kelly; Michael Quinn; Dominica Zentner; Gemma Correnti; Sarah King-Smith; Sulekha Rajagopalan; Edwin Kirk; Hariharan Raju; Fiona Cunningham; Sarah Kummerfeld; Timo Lassman; Matthew Regan; Jason Davis; Jonathon Lipton; Jonathan Rogers; Mark Ryan; Sarah Sandaradura; Michelle de Silva; Paul MacIntyre; Nicole Schonrock; Nicola Den Elzen; Paul Scuffham; Sophie Devery; Amali Mallawaarachchi; Julia Dobbins; Julia Mansour; Isabella Sherburn; Ellenore Martin; Mary-Clare Sherlock; Nathan Dwyer; Jacob Mathew; Emma Singer; Stefanie Elbracht-Leong; Carla Smerdon; David Elliott; Janine Smith
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Academic Journal
Ades, Lesley; Enriquez, Annabel; McLean, Alison; Smyth, Renee; Alankarage, Dimithu; Fatkin, Diane; McNamara, James; Soka, Magdalena; Morgan almog; Fear, Vanessa; Medi, Caroline; Stark, Zornitza; Al-Shinnag, Mohammad; Fine, Miriam; Metke, Alejandro; Sy, Raymond; Atherton, John J.; Finlay, Keri; Milnes, Di; Tang, Dotti; Austin, Rachel; Garza, Denisse; Milward, Michael; Taylor, Jessica; Bagnall, Richard D.; Giannoulatou, Eleni; Morrish, Ansley; Taylor, Shelby; Barnett, Chris; Gongolidis, Laura; Morwood, Jim; Tchan, Michel; Blue, Gillian M.; Gray, Belinda; Mountain, Helen; Thompson, Tina; Bodek, Simon; Greer, Cassie; Mowat, David; Thorpe, Jordan; Boggs, Kirsten; Haan, Eric; Ng, Chai-Ann; Trainer, Alison; Bogwitz, Michael; Haas, Mathilda; Nowak, Natalie; Trivedi, Gunjan; Boughtwood, Tiffany; Hanna, Bernadette; Martinez, Noelia Nunez; Valente, Giulia; Bray, Alessandra; Harvey, Richard; Ohanian, Monique; van Spaendonck-Zwarts, Karin; Brion, Marie-Jo; Hayward, Janette; O’Sullivan, Sinead; Vandenberg, Jamie; Brown, Jaye; Herrera, Carmen; Overkov, Angela; Verma, Kunal; Richardson, Rob Bryson; Hill, Adam; Pachter, Nicholas; Vidgen, Miranda; Burnett, Leslie; Hollingsworth, Georgie; Patel, Chirag; Vohra, Jitendra; Burns, Charlotte; Hollway, Georgina; Perrin, Mark; Waddel-Smith, Kathryn; Cao, Michelle; Horton, Ari E.; Perry, Matthew; Wallis, Mathew; Carr, Will; Howting, Denise; Pflaumer, Andreas; Weintraub, Robert G.; Casauria, Sarah; Ingles, Jodie; Phillips, Peta; Wilson, Meredith; Chalinor, Heather; Isbister, Joanne; Phuong, Thuan; Winlaw, David; Chang, Yuchen; Jackson, Matilda; Pope-Couston, Rachel; Worgan, Lisa; Chapman, Gavin; James, Paul; Poplawski, Nicola K.; Wornham, Linda; Charitou, Theosodia; Jane-Pantaleo, Sarah; Punni, Preeti; Wu, Kathy; Chong, Belinda; Johnson, Renee; Quinn, Michael C.J.; Yeates, Laura; Collins, Felicity; Kelly, Andrew; Quinn, Michael; Zentner, Dominica; Correnti, Gemma; King-Smith, Sarah; Rajagopalan, Sulekha; Cox, Kathy; Kirk, Edwin; Raju, Hariharan; Cunningham, Fiona; Kummerfeld, Sarah; Rath, Emma M.; Das, Debjani; Lassman, Timo; Regan, Matthew; Davis, Jason; Lipton, Jonathon; Rogers, Jonathan; Davis, Andrew; Lunke, Sebastian; Ryan, Mark; De Fazio, Paul; Macciocca, Ivan; Sandaradura, Sarah; de Silva, Michelle; MacIntyre, Paul; Schonrock, Nicole; Den Elzen, Nicola; Madelli, Evanthia O.; Scuffham, Paul; Devery, Sophie; Mallawaarachchi, Amali; Semsarian, Chris; Dobbins, Julia; Mansour, Julia; Sherburn, Isabella; Dunwoodie, Sally L.; Martin, Ellenore; Sherlock, Mary-Clare; Dwyer, Nathan; Mathew, Jacob; Singer, Emma; Elbracht-Leong, Stefanie; Mattiske, Tessa; Smerdon, Carla; Elliott, David; McGaughran, Julie; Smith, Janine; Brown, Jaye S.; Haas, Matilda; Pantaleo, Sarah-Jane
In Genetics in Medicine Open 2024 2
Academic Journal
Consortium, Epi4K; Myers, Candace T; McMahon, Jacinta M; Schneider, Amy L; Petrovski, Slavé; Allen, Andrew S; Carvill, Gemma L; Zemel, Matthew; Saykally, Julia E; LaCroix, Amy J; Heinzen, Erin L; Hollingsworth, Georgina; Nikanorova, Marina; Corbett, Mark; Gecz, Jozef; Coman, David; Freeman, Jeremy; Calvert, Sophie; Gill, Deepak; Carney, Patrick; Lerman-Sagie, Tally; Sampaio, Hugo; Cossette, Patrick; Delanty, Norman; Dlugos, Dennis; Eichler, Evan E; Epstein, Michael P; Glauser, Tracy; Johnson, Michael R; Kuzniecky, Ruben; Marson, Anthony G; O’Brien, Terence J; Ottman, Ruth; Petrou, Stephen; Poduri, Annapurna; Pickrell, William O; Chung, Seo-Kyung; Rees, Mark I; Sherr, Elliott; Sadleir, Lynette G; Goldstein, David B; Lowenstein, Daniel H; Møller, Rikke S; Berkovic, Samuel F; Scheffer, Ingrid E; Mefford, Heather C
American Journal of Human Genetics. 99(2)
Academic Journal
Balestrini, Simona; Mikati, Mohamad A.; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samões, Raquel; Brankovic, Vesna; Padiath, Quasar S.; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M.E.; Davis, Andrew M.; Ryan, Monique M.; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E.; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Inês; Zucca, Claudio; Novy, Jan; Dzieżyc, Karolina; Parowicz, Marek; Mazurkiewicz-Bełdzińska, Maria; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S.; Pitt, Geoffrey S.; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J. Helen; Vavassori, Rosaria; Kaski, Juan P.; Sisodiya, Sanjay M.
Neurology. Nov 24, 2020 95(21):e2866-e2879
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
Florian Leese; Florian Altermatt; Agnès Bouchez; Torbjørn Ekrem; Daniel Hering; Kristian Meissner; Patricia Mergen; Jan Pawlowski; Jeremy Piggott; Frédéric Rimet; Dirk Steinke; Pierre Taberlet; Alexander Weigand; Kessy Abarenkov; Pedro Beja; Lieven Bervoets; Snaedís Björnsdóttir; Pieter Boets; Angela Boggero; Atle Bones; Ángel Borja; Kat Bruce; Vojislava Bursić; Jens Carlsson; Fedor Čiampor; Zuzana Čiamporová-Zatovičová; Eric Coissac; Filipe Costa; Marieta Costache; Simon Creer; Zoltán Csabai; Kristy Deiner; Ángel DelValls; Stina Drakare; Sofia Duarte; Tina Eleršek; Stefano Fazi; Cene Fišer; Jean-François Flot; Vera Fonseca; Diego Fontaneto; Michael Grabowski; Wolfram Graf; Jóhannes Guðbrandsson; Micaela Hellström; Yaron Hershkovitz; Peter Hollingsworth; Bella Japoshvili; John Jones; Maria Kahlert; Belma Kalamujic Stroil; Panagiotis Kasapidis; Martyn Kelly; Mary Kelly-Quinn; Emre Keskin; Urmas Kõljalg; Zrinka Ljubešić; Irena Maček; Elvira Mächler; Andrew Mahon; Marketa Marečková; Maja Mejdandzic; Georgina Mircheva; Matteo Montagna; Christian Moritz; Vallo Mulk; Andreja Naumoski; Ion Navodaru; Judit Padisák; Snæbjörn Pálsson; Kristel Panksep; Lyubomir Penev; Adam Petrusek; Martin Pfannkuchen; Craig Primmer; Baruch Rinkevich; Ana Rotter; Astrid Schmidt-Kloiber; Pedro Segurado; Arjen Speksnijder; Pavel Stoev; Malin Strand; Sigitas Šulčius; Per Sundberg; Michael Traugott; Costas Tsigenopoulos; Xavier Turon; Alice Valentini; Berry van der Hoorn; Gábor Várbíró; Marlen Vasquez Hadjilyra; Javier Viguri; Irma Vitonytė; Alfried Vogler; Trude Vrålstad; Wolfgang Wägele; Roman Wenne; Anne Winding; Guy Woodward; Bojana Zegura; Jonas Zimmermann
Research Ideas and Outcomes, Vol 2, Iss , Pp 1-24 (2016)
Academic Journal
McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, Paul A.; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Ajith Kumar, V. K.; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, Karen I.; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.
Nature. Feb 23, 2017 542(7642):433-438
Academic Journal
Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O.; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G.; Caruso, Paul A.; Lin, Angela E.; Jansen, Floor E.; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H.; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E.; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C.; Kruer, Michael C.
Academic Journal
O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Victor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Curro, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christele; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B.; Hashim, Mona; Heide, Solveig; Helbig, Katherine L.; Helbig, Ingo; Heredia, Raul; Heron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y.; Lavillaureix, Alinoe; Lu, Xin; Maas, Saskia M.; Maegawa, Gustavo H. B.; Marcelis, Carlo L. M.; Mark, Paul R.; Masruha, Marcelo R.; McLaughlin, Heather M.; McWalter, Kirsty; Melchinger, Esther U.; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L. P.; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Riess, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C.; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A.; van der Linden, Helio, Jr.; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G.; Wentzensen, Ingrid M.; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H.; Mcrae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D'Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O'Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I. Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellaker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; Deciphering Dev Disorders DDD
Academic Journal
Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; Anderson, Ilse J.; Skinner, Steven A.; Louie, Raymond J.; Warren, Hannah E.; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H.; Price, Susan; Schnur, Rhonda E.; Douglas, Ganka; Wentzensen, Ingrid M.; Zweier, Christiane; Reis, Andre; Bialer, Martin G.; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.; Monroe, Glen R.; van Gassen, Koen L. I.; Van Binsbergen, Ellen; Newbury-Ecob, Ruth; Bownass, Lucy; Bader, Ingrid; Mayr, Johannes A.; Wortmann, Saskia B.; Jakielski, Kathy J.; Strand, Edythe A.; Kloth, Katja; Bierhals, Tatjana; Roberts, John D.; Petrovich, Robert M.; Machida, Shinichi; Kurumizaka, Hitoshi; Lelieveld, Stefan; Pfundt, Rolph; Jansen, Sandra; Deriziotis, Pelagia; Faivre, Laurence; Thevenon, Julien; Assoum, Mirna; Shriberg, Lawrence; Kleefstra, Tjitske; Brunner, Han G.; Wade, Paul A.; Fisher, Simon E.; Campeau, Philippe M.; Mcrae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D'Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Ben Hutton; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; Mckay, Kirsten; Mckee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Norman, Andrew; O'Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I. Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellaker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; DDD Study
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