학술논문
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'학술논문'
에서 검색결과 460건 | 목록
1~20
Academic Journal
Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi ; Levy, Michael ; Dingemans, Alexander J.M. ; de Vries, Bert B.A. ; Ruiterkamp-Versteeg, Martina ; de Leeuw, Nicole ; Ockeloen, Charlotte W. ; Pfundt, Rolph ; de Boer, Elke ; Kummeling, Joost ; van Bon, Bregje ; van Bokhoven, Hans ; Kasri, Nael Nadif ; Venselaar, Hanka ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Kuechler, Alma ; Elffers, Bart ; van Beeck Calkoen, Rixje ; Hofman, Susanna ; Smith, Audrey ; Valenzuela, Maria Irene ; Srivastava, Siddharth ; Frazier, Zoe ; Maystadt, Isabelle ; Piscopo, Carmelo ; Merla, Giuseppe ; Balasubramanian, Meena ; Santen, Gijs W.E. ; Metcalfe, Kay ; Park, Soo-Mi ; Pasquier, Laurent ; Banka, Siddharth ; Donnai, Dian ; Weisberg, Daniel ; Strobl-Wildemann, Gertrud ; Wagemans, Annemieke ; Vreeburg, Maaike ; Baralle, Diana ; Foulds, Nicola ; Scurr, Ingrid ; Brunetti-Pierri, Nicola ; van Hagen, Johanna M. ; Bijlsma, Emilia K. ; Hakonen, Anna H. ; Courage, Carolina ; Genevieve, David ; Pinson, Lucile ; Forzano, Francesca ; Deshpande, Charu ; Kluskens, Maria L. ; Welling, Lindsey ; Plomp, Astrid S. ; Vanhoutte, Els K. ; Kalsner, Louisa ; Hol, Janna A. ; Putoux, Audrey ; Lazier, Johanna ; Vasudevan, Pradeep ; Ames, Elizabeth ; O'Shea, Jessica ; Lederer, Damien ; Fleischer, Julie ; O'Connor, Mary ; Pauly, Melissa ; Vasileiou, Georgia ; Reis, André ; Kiraly-Borri, Catherine ; Bouman, Arjan ; Barnett, Chris ; Nezarati, Marjan ; Borch, Lauren ; Beunders, Gea ; Özcan, Kübra ; Miot, Stéphanie ; Volker-Touw, Catharina M.L. ; van Gassen, Koen L.I. ; Cappuccio, Gerarda ; Janssens, Katrien ; Mor, Nofar ; Shomer, Inna ; Dominissini, Dan ; Tedder, Matthew L. ; Muir, Alison M. ; Sadikovic, Bekim ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Shinkai, Yoichi ; Kleefstra, Tjitske
In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625
Academic Journal
Borras, Silvia; Clark, Caroline; Dean, John; Miedzybrodzka, Zosia; Ross, Alison; Tennant, Stephen; Dabir, Tabib; Donnelly, Deirdre; Humphreys, Mervyn; Magee, Alex; McConnell, Vivienne; McKee, Shane; McNerlan, Susan; Morrison, Patrick J.; Rea, Gillian; Stewart, Fiona; Cole, Trevor; Cooper, Nicola; Cooper-Charles, Lisa; Cox, Helen; Islam, Lily; Jarvis, Joanna; Keelagher, Rebecca; Lim, Derek; McMullan, Dominic; Morton, Jenny; Naik, Swati; O’Driscoll, Mary; Ong, Kai-Ren; Osio, Deborah; Ragge, Nicola; Turton, Sarah; Vogt, Julie; Williams, Denise; Bodek, Simon; Donaldson, Alan; Hills, Alison; Low, Karen; Newbury-Ecob, Ruth; Norman, Andrew M.; Roberts, Eileen; Scurr, Ingrid; Smithson, Sarah; Tooley, Madeleine; Abbs, Steve; Armstrong, Ruth; Dunn, Carolyn; Holden, Simon; Park, Soo-Mi; Paterson, Joan; Raymond, Lucy; Reid, Evan; Sandford, Richard; Simonic, Ingrid; Tischkowitz, Marc; Woods, Geoff; Bradley, Lisa; Comerford, Joanne; Green, Andrew; Lynch, Sally; McQuaid, Shirley; Mullaney, Brendan; Berg, Jonathan; Goudie, David; Mavrak, Eleni; McLean, Joanne; McWilliam, Catherine; Reavey, Eleanor; Azam, Tara; Cleary, Elaine; Jackson, Andrew; Lam, Wayne; Lampe, Anne; Moore, David; Porteous, Mary; Baple, Emma; Baptista, Júlia; Brewer, Carole; Castle, Bruce; Kivuva, Emma; Owens, Martina; Rankin, Julia; Shaw-Smith, Charles; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Bradley, Therese; Davidson, Rosemarie; Gardiner, Carol; Joss, Shelagh; Kinning, Esther; Longman, Cheryl; McGowan, Ruth; Murday, Victoria; Pilz, Daniela; Tobias, Edward; Whiteford, Margo; Williams, Nicola; Barnicoat, Angela; Clement, Emma; Faravelli, Francesca; Hurst, Jane; Jenkins, Lucy; Jones, Wendy; Ajith Kumar, V.K.; Lees, Melissa; Loughlin, Sam; Male, Alison; Morrogh, Deborah; Rosser, Elisabeth; Scott, Richard; Wilson, Louise; Beleza, Ana; Deshpande, Charu; Flinter, Frances; Holder, Muriel; Irving, Melita; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Molenda, Aneta; Robert, Leema; Roworth, Wendy; Ruddy, Deborah; Ryten, Mina; Yau, Shu; Bennett, Christopher; Blyth, Moira; Campbell, Jennifer; Coates, Andrea; Dobbie, Angus; Hewitt, Sarah; Hobson, Emma; Jackson, Eilidh; Jewell, Rosalyn; Kraus, Alison; Prescott, Katrina; Sheridan, Eamonn; Thomson, Jenny; Bradshaw, Kirsty; Dixit, Abhijit; Eason, Jacqueline; Haines, Rebecca; Harrison, Rachel; Mutch, Stacey; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Sharif, Abid; Suri, Mohnish; Vasudevan, Pradeep; Canham, Natalie; Ellis, Ian; Greenhalgh, Lynn; Howard, Emma; Stinton, Victoria; Swale, Andrew; Weber, Astrid; Banka, Siddharth; Breen, Catherine; Briggs, Tracy; Burkitt-Wright, Emma; Chandler, Kate; Clayton-Smith, Jill; Donnai, Dian; Douzgou, Sofia; Gaunt, Lorraine; Jones, Elizabeth; Kerr, Bronwyn; Langley, Claire; Metcalfe, Kay; Smith, Audrey; Wright, Ronnie; Bourn, David; Burn, John; Fisher, Richard; Hellens, Steve; Henderson, Alex; Montgomery, Tara; Splitt, Miranda; Straub, Volker; Wright, Michael; Zwolinski, Simon; Allen, Zoe; Bernhard, Birgitta; Brady, Angela; Brooks, Claire; Busby, Louise; Clowes, Virginia; Ghali, Neeti; Holder, Susan; Ibitoye, Rita; Wakeling, Emma; Blair, Edward; Carmichael, Jenny; Cilliers, Deirdre; Clasper, Susan; Gibbons, Richard; Kini, Usha; Lester, Tracy; Nemeth, Andrea; Poulton, Joanna; Price, Sue; Shears, Debbie; Stewart, Helen; Wilkie, Andrew; Albaba, Shadi; Baker, Duncan; Balasubramanian, Meena; Johnson, Diana; Parker, Michael; Quarrell, Oliver; Stewart, Alison; Willoughby, Josh; Crosby, Charlene; Elmslie, Frances; Homfray, Tessa; Jin, Huilin; Lahiri, Nayana; Mansour, Sahar; Marks, Karen; McEntagart, Meriel; Saggar, Anand; Tatton-Brown, Kate; Butler, Rachel; Clarke, Angus; Corrin, Sian; Fry, Andrew; Kamath, Arveen; McCann, Emma; Mugalaasi, Hood; Pottinger, Caroline; Procter, Annie; Sampson, Julian; Sansbury, Francis; Varghese, Vinod; Baralle, Diana; Callaway, Alison; Cassidy, Emma J.; Daniels, Stacey; Douglas, Andrew; Foulds, Nicola; Hunt, David; Kharbanda, Mira; Lachlan, Katherine; Mercer, Catherine; Side, Lucy; Temple, I. Karen; Wellesley, Diana; Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; FurióTarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; MaleadyCrowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Sharma, Prashant; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty ; Donkervoort, Sandra ; Brodsky, Nina N. ; Carpier, Jean-Marie ; Ji, Weizhen ; Ionita, Cristian ; Roy, Bhaskar ; Morrow, Jon S. ; Darbinyan, Armine ; Iyer, Krishna ; Aul, Ritu B. ; Chao, Katherine R. ; Cobbold, Laura ; Cohen, Stacey ; Custodio, Helena M. ; Drummond-Borg, Margaret ; Finanger, Erika ; Hainline, Bryan E. ; Helbig, Ingo ; Hewson, Stacy ; Hu, Ying ; Jackson, Adam ; Konstantino, Monica ; Leach, Meganne E. ; McCormick, David ; Nelson, Stanley ; Nguyen, Joanne ; Nugent, Kimberly ; Ortega, Lucy ; Goodkin, Howard P. ; Roeder, Elizabeth ; Roy, Sani ; Sapp, Katie ; Saade, Dimah ; Sisodiya, Sanjay M. ; Stals, Karen ; Towner, Shelley ; Wilson, William ; Khokha, Mustafa K. ; Bönnemann, Carsten G. ; Lucas, Carrie L. ; Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian J. ; Mazzeu, Juliana F. ; Du, Haowei ; Dawood, Moez ; Soper, Patricia Celestino ; Ramalho de Lima, Ariadne ; Ferreira, Bárbara Merfort ; Coban-Akdemir, Zeynep ; White, Janson ; Shears, Deborah ; Thomson, Fraser Robert ; Douglas, Sarah Louise ; Wainwright, Andrew ; Bailey, Kathryn ; Wordsworth, Paul ; Oldridge, Mike ; Lester, Tracy ; Calder, Alistair D. ; Dumic, Katja ; Banka, Siddharth ; Donnai, Dian ; Jhangiani, Shalini N. ; Potocki, Lorraine ; Chung, Wendy K. ; Mora, Sara ; Northrup, Hope ; Ashfaq, Myla ; Rosenfeld, Jill A. ; Mason, Kati ; Pollack, Lynda C. ; McConkie-Rosell, Allyn ; Kelly, Wei ; McDonald, Marie ; Hauser, Natalie S. ; Leahy, Peter ; Powell, Cynthia M. ; Boy, Raquel ; Honjo, Rachel Sayuri ; Kok, Fernando ; Martelli, Lucia R. ; Filho, Vicente Odone ; Genomics England Research Consortium ; Muzny, Donna M. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Liu, Pengfei ; Lupski, James R. ; Sutton, V. Reid ; Carvalho, Claudia M.B.
In Human Genetics and Genomics Advances 13 January 2022 3(1)
Academic Journal
Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia ; Hiatt, Susan M. ; Rustad, Cecilie F. ; Brown, Natasha J. ; Earl, Dawn L. ; Keren, Boris ; Levchenko, Olga ; Geuer, Sinje ; Verheyen, Sarah ; Johnson, Diana ; Zarate, Yuri A. ; Hančárová, Miroslava ; Amor, David J. ; Bebin, E. Martina ; Blatterer, Jasmin ; Brusco, Alfredo ; Cappuccio, Gerarda ; Charrow, Joel ; Chatron, Nicolas ; Cooper, Gregory M. ; Courtin, Thomas ; Dadali, Elena ; Delafontaine, Julien ; Del Giudice, Ennio ; Doco, Martine ; Douglas, Ganka ; Eisenkölbl, Astrid ; Funari, Tara ; Giannuzzi, Giuliana ; Gruber-Sedlmayr, Ursula ; Guex, Nicolas ; Heron, Delphine ; Holla, Øystein L. ; Hurst, Anna C.E. ; Juusola, Jane ; Kronn, David ; Lavrov, Alexander ; Lee, Crystle ; Lorrain, Séverine ; Merckoll, Else ; Mikhaleva, Anna ; Norman, Jennifer ; Pradervand, Sylvain ; Prchalová, Darina ; Rhodes, Lindsay ; Sanders, Victoria R. ; Sedláček, Zdeněk ; Seebacher, Heidelis A. ; Sellars, Elizabeth A. ; Sirchia, Fabio ; Takenouchi, Toshiki ; Tanaka, Akemi J. ; Taska-Tench, Heidi ; Tønne, Elin ; Tveten, Kristian ; Vitiello, Giuseppina ; Vlčková, Markéta ; Uehara, Tomoko ; Nava, Caroline ; Yalcin, Binnaz ; Kosaki, Kenjiro ; Donnai, Dian ; Mundlos, Stefan ; Brunetti-Pierri, Nicola ; Chung, Wendy K. ; Reymond, Alexandre
In The American Journal of Human Genetics 6 May 2021 108(5):857-873
Academic Journal
Schanze, Ina ; Bunt, Jens ; Lim, Jonathan W.C. ; Schanze, Denny ; Dean, Ryan J. ; Alders, Marielle ; Blanchet, Patricia ; Attié-Bitach, Tania ; Berland, Siren ; Boogert, Steven ; Boppudi, Sangamitra ; Bridges, Caitlin J. ; Cho, Megan T. ; Dobyns, William B. ; Donnai, Dian ; Douglas, Jessica ; Earl, Dawn L. ; Edwards, Timothy J. ; Faivre, Laurence ; Fregeau, Brieana ; Genevieve, David ; Gérard, Marion ; Gatinois, Vincent ; Holder-Espinasse, Muriel ; Huth, Samuel F. ; Izumi, Kosuke ; Kerr, Bronwyn ; Lacaze, Elodie ; Lakeman, Phillis ; Mahida, Sonal ; Mirzaa, Ghayda M. ; Morgan, Sian M. ; Nowak, Catherine ; Peeters, Hilde ; Petit, Florence ; Pilz, Daniela T. ; Puechberty, Jacques ; Reinstein, Eyal ; Rivière, Jean-Baptiste ; Santani, Avni B. ; Schneider, Anouck ; Sherr, Elliott H. ; Smith-Hicks, Constance ; Wieland, Ilse ; Zackai, Elaine ; Zhao, Xiaonan ; Gronostajski, Richard M. ; Zenker, Martin ; Richards, Linda J.
In The American Journal of Human Genetics 1 November 2018 103(5):752-768
Academic Journal
Beleza-Meireles, Ana ; Hart, Rachel ; Clayton-Smith, Jill ; Oliveira, Renata ; Reis, Cláudia Falcão ; Venâncio, Margarida ; Ramos, Fabiana ; Sá, Joaquim ; Ramos, Lina ; Cunha, Elizabete ; Pires, Luís Miguel ; Carreira, Isabel Marques ; Scholey, Rachel ; Wright, Ronnie ; Urquhart, Jill E. ; Briggs, Tracy A. ; Kerr, Bronwyn ; Kingston, Helen ; Metcalfe, Kay ; Donnai, Dian ; Newman, William G. ; Saraiva, Jorge Manuel ; Tassabehji, May
In European Journal of Medical Genetics September 2015 58(9):455-465
Academic Journal
Payne, Katherine ; Nicholls, Stuart ; McAllister, Marion ; MacLeod, Rhona ; Donnai, Dian ; Davies, Linda M.
In Value in Health 2008 11(3):497-508
Academic Journal
den Hoed, Joery ; de Boer, Elke ; Voisin, Norine ; Dingemans, Alexander J.M. ; Guex, Nicolas ; Wiel, Laurens ; Nellaker, Christoffer ; Amudhavalli, Shivarajan M. ; Banka, Siddharth ; Bena, Frederique S. ; Ben-Zeev, Bruria ; Bonagura, Vincent R. ; Bruel, Ange-Line ; Brunet, Theresa ; Brunner, Han G. ; Chew, Hui B. ; Chrast, Jacqueline ; Cimbalistienė, Loreta ; Coon, Hilary ; Délot, Emmanuèlle C. ; Démurger, Florence ; Denommé-Pichon, Anne-Sophie ; Depienne, Christel ; Donnai, Dian ; Dyment, David A. ; Elpeleg, Orly ; Faivre, Laurence ; Gilissen, Christian ; Granger, Leslie ; Haber, Benjamin ; Hachiya, Yasuo ; Abedi, Yasmin Hamzavi ; Hanebeck, Jennifer ; Hehir-Kwa, Jayne Y. ; Horist, Brooke ; Itai, Toshiyuki ; Jackson, Adam ; Jewell, Rosalyn ; Jones, Kelly L. ; Joss, Shelagh ; Kashii, Hirofumi ; Kato, Mitsuhiro ; Kattentidt-Mouravieva, Anja A. ; Kok, Fernando ; Kotzaeridou, Urania ; Krishnamurthy, Vidya ; Kučinskas, Vaidutis ; Kuechler, Alma ; Lavillaureix, Alinoë ; Liu, Pengfei ; Manwaring, Linda ; Matsumoto, Naomichi ; Mazel, Benoît ; McWalter, Kirsty ; Meiner, Vardiella ; Mikati, Mohamad A. ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Moey, Lip H. ; Mohammed, Shehla ; Mor-Shaked, Hagar ; Mountford, Hayley ; Newbury-Ecob, Ruth ; Odent, Sylvie ; Orec, Laura ; Osmond, Matthew ; Palculict, Timothy B. ; Parker, Michael ; Petersen, Andrea K. ; Pfundt, Rolph ; Preikšaitienė, Eglė ; Radtke, Kelly ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Santiago-Sim, Teresa ; Schwager, Caitlin ; Sinnema, Margje ; Snijders Blok, Lot ; Spillmann, Rebecca C. ; Stegmann, Alexander P.A. ; Thiffault, Isabelle ; Tran, Linh ; Vaknin-Dembinsky, Adi ; Vedovato-dos-Santos, Juliana H. ; Schrier Vergano, Samantha A. ; Vilain, Eric ; Vitobello, Antonio ; Wagner, Matias ; Waheeb, Androu ; Willing, Marcia ; Zuccarelli, Britton ; Kini, Usha ; Newbury, Dianne F. ; Kleefstra, Tjitske ; Reymond, Alexandre ; Fisher, Simon E. ; Vissers, Lisenka E.L.M.
In The American Journal of Human Genetics 4 February 2021 108(2):346-356
Academic Journal
Payne, Katherine ; Nicholls, Stuart G. ; McAllister, Marion ; MacLeod, Rhona ; Ellis, Ian ; Donnai, Dian ; Davies, Linda M.
In Health policy 2007 84(1):112-122
Academic Journal
Hammond, Peter ; Hutton, Tim J. ; Allanson, Judith E. ; Buxton, Bernard ; Campbell, Linda E. ; Clayton-Smith, Jill ; Donnai, Dian ; Karmiloff-Smith, Annette ; Metcalfe, Kay ; Murphy, Kieran C. ; Patton, Michael ; Pober, Barbara ; Prescott, Katrina ; Scambler, Pete ; Shaw, Adam ; Smith, Ann C.M. ; Stevens, Angela F. ; Temple, I. Karen ; Hennekam, Raoul ; Tassabehji, May
In The American Journal of Human Genetics 2005 77(6):999-1010
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, 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; 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. 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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. 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In The American Journal of Human Genetics 6 June 2019 104(6):1210-1222
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, A. 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In The American Journal of Human Genetics 2 May 2019 104(5):948-956
Academic Journal
Adam, Shelin; du Souich, Christèle; Elliott, Alison M.; Lehman, Anna; Mwenifumbo, Jill; Nelson, Tanya N.; van Karnebeek, Clara; Friedman, Jan 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; 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; 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.; Faundes, Víctor ; Newman, William G. ; Bernardini, Laura ; Dallapiccola, Bruno ; Davies, Sally J. ; Demos, Michelle K. ; Goldman, Amy ; Horton, Rachel ; Robertson, Lisa
In The American Journal of Human Genetics 4 January 2018 102(1):175-187
Academic Journal
Machado, Rajiv D ; Pauciulo, Michael W. ; Thomson, Jennifer R. ; Lane, Kirk B. ; Morgan, Neil V. ; Wheeler, Lisa ; Phillips III, John A. ; Newman, John ; Williams, Denise ; Galiè, Nazzareno ; Manes, Alessandra ; McNeil, Keith ; Yacoub, Magdi ; Mikhail, Ghada ; Rogers, Paula ; Corris, Paul ; Humbert, Marc ; Donnai, Dian ; Martensson, Gunnar ; Tranebjaerg, Lisbeth ; Loyd, James E. ; Trembath, Richard C. ; Nichols, William C.
In The American Journal of Human Genetics 2001 68(1):92-102
Academic Journal
Hockenhull, Emma L.; Carette, Martin J.; Metcalfe, Kay; Donnai, Dian; Read, Andrew P.; Tassabehji, Mayada
In Genomics 1 June 1999 58(2):138-145
Academic Journal
Stewart, Helen ; Black, Graeme C.M ; Donnai, Dian ; Bonshek, Richard E ; McCarthy, John ; Morgan, Steven ; Dixon, Michael J ; Ridgway, Alan A.E
In Ophthalmology 1999 106(5):964-970
Academic Journal
Black, Graeme C.M ; Perveen, Rahat ; Wiszniewski, Wojtek ; Dodd, Christopher L ; Donnai, Dian ; McLeod, David
In Ophthalmology 1999 106(11):2074-2081
Academic Journal
Tassabehji, Mayada ; Metcalfe, Kay ; Karmiloff-Smith, Annette ; Carette, Martin J. ; Grant, Julia ; Dennis, Nick ; Reardon, W. ; Splitt, Miranda ; Read, Andrew P. ; Donnai, Dian
In The American Journal of Human Genetics 1999 64(1):118-125
Academic Journal
Hussain, Muhammad Sajid ; Battaglia, Agatino ; Szczepanski, Sandra ; Kaygusuz, Emrah ; Toliat, Mohammad Reza ; Sakakibara, Shin-ichi ; Altmüller, Janine ; Thiele, Holger ; Nürnberg, Gudrun ; Moosa, Shahida ; Yigit, Gökhan ; Beleggia, Filippo ; Tinschert, Sigrid ; Clayton-Smith, Jill ; Vasudevan, Pradeep ; Urquhart, Jill E. ; Donnai, Dian ; Fryer, Alan ; Percin, Ferda ; Brancati, Francesco ; Dobbie, Angus ; Śmigiel, Robert ; Gillessen-Kaesbach, Gabriele ; Wollnik, Bernd ; Noegel, Angelika Anna ; Newman, William G. ; Nürnberg, Peter
In The American Journal of Human Genetics 6 November 2014 95(5):622-632
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