학술논문
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'학술논문'
에서 검색결과 275건 | 목록
1~20
Academic Journal
Alistair T. Pagnamenta; Jing Yu; Susan Walker; Alexandra J. Noble; Jenny Lord; Prasun Dutta; Mona Hashim; Carme Camps; Hannah Green; Smrithi Devaiah; Lina Nashef; Jason Parr; Carl Fratter; Rana Ibnouf Hussein; Sarah J. Lindsay; Fiona Lalloo; Benito Banos-Pinero; David Evans; Lucy Mallin; Adrian Waite; Julie Evans; Andrew Newman; Zoe Allen; Cristina Perez-Becerril; Gavin Ryan; Rachel Hart; John Taylor; Tina Bedenham; Emma Clement; Ed Blair; Eleanor Hay; Francesca Forzano; Jenny Higgs; Natalie Canham; Anirban Majumdar; Meriel McEntagart; Nayana Lahiri; Helen Stewart; Sarah Smithson; Eduardo Calpena; Adam Jackson; Siddharth Banka; Hannah Titheradge; Ruth McGowan; Julia Rankin; Charles Shaw-Smith; D. Gareth Evans; George J. Burghel; Miriam J. Smith; Emily Anderson; Rajesh Madhu; Helen Firth; Sian Ellard; Paul Brennan; Claire Anderson; Doug Taupin; Mark T. Rogers; Jackie A. Cook; Miranda Durkie; James E. East; Darren Fowler; Louise Wilson; Rebecca Igbokwe; Alice Gardham; Ian Tomlinson; Diana Baralle; Holm H. Uhlig; Jenny C. Taylor
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Pagnamenta, A T, Walker, S, Noble, A J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lalloo, F, Waite, A, Evans, J, Allen, Z, Perez-Becerril, C, Hart, R, Taylor, J, Bedenham, T, Clement, E, Blair, E, Hay, E, Forzano, F, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J,Shaw -Smith , C, Evans, D G, Burghel, G J, Smith , M J, Anderson, E, Madhu, R, Firth, H, Ellard, S, Brennan, P, Taupin, D, Rogers, M T, Cook, J A, Durkie, M, East, J E, Fowler, D, Wilson, L, Igbokwe, R, Gardham, A, Tomlinson, I, Baralle, D, Uhlig, H H & Taylor, J C 2024, 'The impact of inversions across 33,924 families with rare disease from a national genome sequencing project', American Journal of Human Genetics, vol. 111, no. 6, pp. 1140-1164. https://doi.org/10.1016/j.ajhg.2024.04.018
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Pagnamenta, A T, Walker, S, Noble, A J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lalloo, F, Waite, A, Evans, J, Allen, Z, Perez-Becerril, C, Hart, R, Taylor, J, Bedenham, T, Clement, E, Blair, E, Hay, E, Forzano, F, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J,
Academic Journal
Walker, Susan ; Bunyan, David J. ; Thomas, Huw B. ; Kesim, Yesim ; Kershaw, Christopher J. ; Holloway, John ; Wai, Htoo ; Day, Michael ; Smith, Cassandra L. ; Hawkes, Gareth ; Wood, Andrew R. ; Weedon, Michael N. ; Blair, Ed ; Curtis, Stephanie L. ; Fielden, Catherine ; Evans, Julie ; Whittington, Rebecca ; Smithson, Sarah F. ; Cox, Helen ; Clift, Paul ; McEntagart, Meriel ; Prapa, Matina ; Alsters, Suzanne ; Morris-Rosendahl, Deborah ; Dean, John ; Morrison, Patrick J. ; Dixit, Abhijit ; Sarkar, Ajoy ; Prescott, Katrina ; Amel Riazat Kesh, Leila ; Tharakan, Riya ; Turner, Claire ; Ellard, Sian ; Shaw-Smith, Charles ; Fasham, James ; Clowes, Virginia ; Holden, Simon ; Somarathi, Suresh ; Mercer, Catherine ; Berry, Ian ; O’Keefe, Raymond T. ; Banka, Siddharth ; Baralle, Diana ; Thomas, N. Simon ; Baple, Emma L. ; Taylor, Jenny C. ; Pagnamenta, Alistair T.
In Genetics in Medicine September 2025 27(9)
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
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
Hannah Slevin; Fiona Kehinde; Jannath Begum-Ali; Ceri Ellis; Emma Burkitt-Wright; Jonathan Green; Mark H. Johnson; Greg Pasco; Tony Charman; Emily J. H. Jones; Shruti Garg; Mary Agyapong; Tessel Bazelmans; Leila Dafner; Mutluhan Ersoy; Teodora Gliga; Amy Goodwin; Rianne Haartsen; Hanna Halkola; Alexandra Hendry; Rebecca Holman; Sarah Kalwarowsky; Sarah Lloyd-Fox; Luke Mason; Nisha Narvekar; Laura Pirazzoli; Chloë Taylor; Grace Vassallo; Judith Eelloo; D. Gareth Evans; Siobhan West; Eileen Hupton; Louise Robinson; Neeta Lakhani; Brian Wilson; Deborah Osio; Charles Shaw-Smith; Natalie Canham; Saba Sharif
Mol Autism
Molecular Autism, Vol 15, Iss 1, Pp 1-16 (2024)
EDEN-STAARS team, Garg, S, Slevin, H, Kehinde, F, Begum-Ali, J, Ellis, C, Burkitt-Wright, E, Green, J, Johnson, M H, Pasco, G, Charman, T & Jones, E J H 2024, 'Developmental trajectories in infants and pre-school children with Neurofibromatosis 1', Molecular Autism, vol. 15, no. 1, 45. https://doi.org/10.1186/s13229-024-00621-5
Molecular Autism, Vol 15, Iss 1, Pp 1-16 (2024)
EDEN-STAARS team, Garg, S, Slevin, H, Kehinde, F, Begum-Ali, J, Ellis, C, Burkitt-Wright, E, Green, J, Johnson, M H, Pasco, G, Charman, T & Jones, E J H 2024, 'Developmental trajectories in infants and pre-school children with Neurofibromatosis 1', Molecular Autism, vol. 15, no. 1, 45. https://doi.org/10.1186/s13229-024-00621-5
Academic Journal
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Živná, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyleťal, Petr; Barešová, Veronika; Hodaňová, Kateřina; Sovová, Jana; Hartmannová, Hana; Votruba, Miroslav; Trešlová, Helena; Jedličková, Ivana; Sikora, Jakub; Hůlková, Helena; Robins, Victoria; Hnízda, Aleš; Živný, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B; Wenzel, Andrea; Tory, Kálmán; Häeffner, Karsten; Wolf, Matthias T F; Bleyer, Michael E; Sayer, John A; Ong, Albert C M; Balogh, Lídia; Jakubowska, Anna; Łaszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J
Kidney International
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American Journal of Human Genetics, 104, 6, pp. 1210-1222
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Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
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Human Mutation. 34(6):801-811
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Wakeling, Emma ; McEntagart, Meriel ; Bruccoleri, Michael ; Shaw-Smith, Charles ; Stals, Karen L. ; Wakeling, Matthew ; Barnicoat, Angela ; Beesley, Clare ; Hanson-Kahn, Andrea K. ; Kukolich, Mary ; Stevenson, David A. ; Campeau, Philippe M. ; Ellard, Sian ; Elsea, Sarah H. ; Yang, Xiang-Jiao ; Caswell, Richard C.
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American Journal of Human Genetics, 104, 5, pp. 914-924
The American journal of human genetics
The American journal of human genetics
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Lynette G. Sadleir; Emily I. Mountier; Deepak Gill; Suzanne Davis; Charuta Joshi; Catherine DeVile; Manju A. Kurian; Simone Mandelstam; Elaine Wirrell; Katherine C. Nickels; Hema R. Murali; Gemma Carvill; Candace T. Myers; Heather C. Mefford; Ingrid E. Scheffer; A. Paul Bevan; Abhijit Dixit; Abigail Pridham; Adrian R. Tivey; Ajoy Sarkar; Alan Donaldson; Alan Fryer; Alejandro Sifrim; Alex Henderson; Alex Magee; Alexis Duncan; Alison Kraus; Alison Male; Alison Ross; Amanda Collins; Anand Saggar; Andrea Coates; Andrea Nemeth; Andrew Fry; Andrew Green; Andrew Jackson; Andrew Norman; Angela Barnicoat; Angela Brady; Angela Douglas; Angus Clarke; Angus Dobbie; Ann Selby; Anna Middleton; Anne Lampe; Anneke Seller; Annie Procter; Karenza Evans; Anthony Vandersteen; Astrid Weber; Audrey Smith; Audrey Torokwa; Beckie Kaemba; Becky Treacy; Beiyuan Fu; Ben Hutton; Birgitta Bernhard; Bronwyn Kerr; Bruce Castle; Carina Donnelly; Carol Gardiner; Carol Scott; Carole Brewer; Caroline F. 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Firth; Hellen Purnell; Hood Mugalaasi; Ian Ellis; Ingrid Scurr; Ingrid Simonic; Irina Colgiu; Jacqueline Eason; Jana Awada; Jane Hurst; Jeffrey C. Barrett; Jenny Morton; Jenny Thomson; Jeremy McRae; Jill Clayton-Smith; Joan Paterson; Joanna Jarvis; Joanna Kaplanis; Joanna Poulton; John Burn; John Burton; John Dean; John Tolmie; Jonathan Berg; Jonathan Roberts; Jonathon Waters; Josh Randall; Judith Goodship; Julia Rankin; Julian Sampson; Julie Phipps; Julie Vogt; Kai-Ren Ong; Karen Marks; Kate Brunstrom; Kate Chandler; Kate Tatton-Brown; Kath Smith; Katherine I. Morley; Katherine Lachlan; I. Karen Temple; Katherine Martin; Katrina Prescott; Kay Metcalfe; Kirsten McKay; Kirsty Ambridge; Lara Cresswell; Laura E. Mason; Laura Yates; Leema Robert; Lily Islam; Linda Sneddon; Lisa Bradley; Liu He; Lorraine Gaunt; Louise Bourdon; Louise Brueton; Louise Nevitt; Louise Wilson; Lucy Harrison; Lucy Hilyard; Lucy Jenkins; Lucy Raymond; Lynn Greenhalgh; Marc Tischkowitz; Margo Whiteford; Margriet van Kogelenberg; Maria Bitner-Glindzicz; Mariella D’Alessandro; Martin Pollard; Matthew E. Hurles; Meena Balasubramanian; Melissa Lees; Melita Irving; Meriel McEntagart; Mervyn Humphreys; Michael Parker; Michael Wright; Michael Yau; Miranda Splitt; Miranda Squires; Mohnish Suri; Mohsan Alvi; Moira Blyth; Morag N. Collinson; Munaza Ahmed; Muriel Holder; Nadia Akawi; Natalie Canham; Neeti Ghali; Netravathi Krishnappa; Nicola Cooper; Nicola Foulds; Nicola Ragge; Nicola Williams; Nigel P. Carter; Nora Shannon; Norman Pratt; Oliver Quarrell; Paul Batstone; Paul Roberts; Peter Ellis; Peter Turnpenny; Philip Greene; Philip Jones; Pradeep Vasudevan; Rachel Harrison; Raheleh Rahbari; Ray Miller; Richard Fisher; Richard Gibbons; Richard Sandford; Richard Scott; Rob Andrews; Rohan Taylor; Roldan Singzon; Rose Hawkins; Rosemarie Davidson; Rosemary Kelsell; Rosie O’Shea; Ruby Banerjee; Ruth Armstrong; Ruth McGowan; Ruth Newbury-Ecob; Saba Sharif; Mark Tein; Saeed Al-Turki; Sahar Mansour; Sally Ann Lynch; Sally Davies; Sandra Kazembe; Sandra Louzada Gomes Pereira; Sara Widaa; Sarah Edkins; Sarah Everest; Sarah Hewitt; Sarah Smithson; Sarah Wallwark; Sarah Wilcox; Sarju Mehta; Sebastian S. Gerety; Shalaka Samant; Shane McKee; Shehla Mohammed; Shelagh Joss; Sian Ellard; Sian Morgan; Siddhartha Banka; Simon Brent; Simon Holden; Sofia Douzgou; Soo-Mi Park; Stephen Clayton; Stephen Hellens; Stewart Payne; Stuart Aitken; Stuart Ingram; Sue Price; Susan Clasper; Susan Gribble; Susan Holder; Susan McNerlan; Susan Tomkins; Susann Schweiger; Suzannah J. Bumpstead; Swati Naik; Tabib Dabir; Tanya Bayzetinova; Tara Montgomery; Tarjinder Singh; Tessa Homfray; Tina Fendick; Tomas W. Fitzgerald; Trevor Cole; Una Maye; Uruj Anjum; Usha Kini; V. K. Ajith Kumar; Victoria Harrison; Victoria Murday; Vijaya Parthiban; Vinod Varghese; Virginia Clowes; Vivienne McConnell; Vivienne Sutton; Volker Straub; Wayne Lam; Wendy D. Jones; Yanick Crow; Zara Skitt; Zosia Miedzybrodzka
Neurology
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
Academic Journal
Rosalind Verheije; Gabriel S. Kupchik; Bertrand Isidor; Hester Y. Kroes; Sally Ann Lynch; Lara Hawkes; Maja Hempel; Bruce D. Gelb; Jamal Ghoumid; Guylaine D’Amours; Kate Chandler; Christèle Dubourg; Sara Loddo; Zeynep Tümer; Charles Shaw-Smith; Mathilde Nizon; Michael Shevell; Evelien Van Hoof; Kwame Anyane-Yeboa; Gaetana Cerbone; Jill Clayton-Smith; Benjamin Cogné; Pierre Corre; Anniek Corveleyn; Marie De Borre; Tina Duelund Hjortshøj; Mélanie Fradin; Marc Gewillig; Elizabeth Goldmuntz; Greet Hens; Emmanuelle Lemyre; Hubert Journel; Usha Kini; Fanny Kortüm; Cedric Le Caignec; Antonio Novelli; Sylvie Odent; Florence Petit; Anya Revah-Politi; Nicholas Stong; Tim M. Strom; Ellen van Binsbergen; Koenraad Devriendt; Jeroen Breckpot
European journal of human genetics : EJHG
United States
United Kingdom
England
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z,Shaw -smith , C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith , J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, 'Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290. https://doi.org/10.1038/s41431-018-0281-5
United States
United Kingdom
England
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z,
Academic Journal
Manuela Priolo; Denny Schanze; Katrin Tatton-Brown; Paul A. Mulder; Jair Tenorio; Kreepa Kooblall; Inés Hernández Acero; Fowzan S. Alkuraya; Pedro Arias; Laura Bernardini; Emilia K. Bijlsma; Trevor Cole; Christine Coubes; Irene Dapia; Sally Davies; Nataliya Di Donato; Nursel H. Elcioglu; Jill A. Fahrner; Alison Foster; Noelia García González; Ilka Huber; Maria Iascone; Ann-Sophie Kaiser; Arveen Kamath; Jan Liebelt; Sally Ann Lynch; Saskia M. Maas; Corrado Mammì; Inge B. Mathijssen; Shane McKee; Leonie A. Menke; Ghayda M. Mirzaa; Tara Montgomery; Dorothee Neubauer; Thomas E. Neumann; Letizia Pintomalli; Maria Antonietta Pisanti; Astrid S. Plomp; Sue Price; Claire Salter; Fernando Santos-Simarro; Pierre Sarda; Mabel Segovia; Charles Shaw-Smith; Sarah Smithson; Mohnish Suri; Rita Maria Valdez; Arie Van Haeringen; Johanna M. Van Hagen; Marcela Zollino; Pablo Lapunzina; Rajesh V. Thakker; Martin Zenker; Raoul C. Hennekam
Hum Mutat
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M,Shaw -Smith , C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M,Shaw -Smith , C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M,
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M,
Academic Journal
Martin, HC; Gardner, EJ; Samocha, KE; Kaplanis, J; Akawi, N; Sifrim, A; Eberhardt, RY; Tavares, ALT; Neville, MDC; Niemi, MEK; Gallone, G; McRae, J; Borras, S; Clark, C; Dean, J; Miedzybrodzka, Z; Ross, A; Tennant, S; Dabir, T; Donnelly, D; Humphreys, M; Magee, A; McConnell, V; McKee, S; McNerlan, S; Morrison, PJ; Rea, G; Stewart, F; Cole, T; Cooper, N; Cooper-Charles, L; Cox, H; Islam, L; Jarvis, J; Keelagher, R; Lim, D; McMullan, D; Morton, J; Naik, S; O’Driscoll, M; Ong, KR; Osio, D; Ragge, N; Turton, S; Vogt, J; Williams, D; Bodek, S; Donaldson, A; Hills, A; Low, K; Newbury-Ecob, R; Norman, AM; Roberts, E; Scurr, I; Smithson, S; Tooley, M; Abbs, S; Armstrong, R; Dunn, C; Holden, S; Park, SM; Paterson, J; Raymond, L; Reid, E; Sandford, R; Simonic, I; Tischkowitz, M; Woods, G; Bradley, L; Comerford, J; Green, A; Lynch, S; McQuaid, S; Mullaney, B; Berg, J; Goudie, D; Mavrak, E; McLean, J; McWilliam, C; Reavey, E; Azam, T; Cleary, E; Jackson, A; Lam, W; Lampe, A; Moore, D; Porteous, M; Baple, E; Baptista, J; Brewer, C; Castle, B; Kivuva, E; Owens, M; Rankin, J; Shaw-Smith, C; Turner, C; Turnpenny, P; Tysoe, C; Bradley, T; Davidson, R
Academic Journal
Gueneau, Lucie ; Fish, Richard J. ; Shamseldin, Hanan E. ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R. ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam ; Jamuar, Saumya Shekhar ; Ying, Lim J. ; Bonnard, Carine ; Pippucci, Tommaso ; Pradervand, Sylvain ; Roechert, Bernd ; van Hasselt, Peter M. ; Wiederkehr, Michaël ; Wright, Caroline F. ; Xenarios, Ioannis ; van Haaften, Gijs ; Shaw-Smith, Charles ; Schindewolf, Erica M. ; Neerman-Arbez, Marguerite ; Sanlaville, Damien ; Lesca, Gaëtan ; Guibaud, Laurent ; Reversade, Bruno ; Chelly, Jamel ; Kučinskas, Vaidutis ; Alkuraya, Fowzan S. ; Reymond, Alexandre
In The American Journal of Human Genetics 4 January 2018 102(1):116-132
Academic Journal
Víctor Faundes; William G. Newman; Laura Bernardini; Natalie Canham; Jill Clayton-Smith; Bruno Dallapiccola; Sally J. Davies; Michelle K. Demos; Amy Goldman; Harinder Gill; Rachel Horton; Bronwyn Kerr; Dhavendra Kumar; Anna Lehman; Shane McKee; Jenny Morton; Michael J. Parker; Julia Rankin; Lisa Robertson; I. Karen Temple; Shelin Adam; Christèle du Souich; Alison M. Elliott; Jill Mwenifumbo; Tanya N. Nelson; Clara van Karnebeek; Jan M. Friedman; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; V.K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. . Hurles
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith , J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, 'Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187. https://doi.org/10.1016/j.ajhg.2017.11.013
Academic Journal
Clinical Nephrology. 91:386-388
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