학술논문
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'학술논문'
에서 검색결과 367건 | 목록
1~20
Academic Journal
Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R.; Rosenfeld, Jill A.; Luna, Pamela N.; Shaw, Chad A.; Scott, Daryl A.
European Journal of Human Genetics. 34(3):333-339
Academic Journal
Jost, Marie E., MD; Schweizer, Moyra, MSc; Henning, Philipp, PhD; Gorzelanny, Christian, PhD; Lehners, Moritz, PhD; Ellinger, Bernhard, PhD; Boix-Campos, Javier, MSc; Kux, Johan-Moritz; Singh, Shubhangi, PhD; Fachinger, Alexandra, PhD; Martinez Pomier, Karla, PhD; VanSchouwen, Bryan, PhD; Billing, Anja M., PhD; Biedenweg, Doreen; Schweizer, Michaela, PhD; Siegel, Saskia; Reimer, Rudolph, PhD; Brandt, Mona, MSc; Priesmeier, Laura, MD; Fuchs, Ulrike, MSc; Pflaumenbaum, Julia, PhD; Nikolaev, Viacheslav O., PhD; Newbury-Ecob, Ruth, MD; Wilsdon, Anna, MD; Rybczynski, Meike, MD; Gehle, Petra, MD; Zelarayán, Laura C., PhD; Stafforst, Thorsten, PhD; Feil, Robert, PhD; Rinschen, Markus M., MD; Pless, Ole, PhD; Eaton, Philip, PhD; Sáez, Pablo J., PhD; Otto, Oliver, PhD; Melacini, Giuseppe, PhD; Demal, Till J., MD; Eschenhagen, Thomas, MD; Herberg, Friedrich W., PhD; Cuello, Friederike, PhD
JACC: Basic to Translational Science. 11(2)
Academic Journal
Cosima M. Schmid; Anne Gregor; Anna Ruiz; Carmen Manso Bazús; Isabella Herman; Farah Ammouri; Urania Kotzaeridou; Vanda McNiven; Lucie Dupuis; Katharina Steindl; Anaïs Begemann; Anita Rauch; Aude-Annick Suter; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Benjamin Cogné; Wallid Deb; Thomas Besnard; Tobias B. Haack; Ruth J. Falb; Amelie J. Müller; Tobias Linden; Chad R. Haldeman-Englert; Charlotte W. Ockeloen; Francesca Mattioli; Alexandre Reymond; Nazia Ibrahim; Shagufta Naz; Elodie Lacaze; Jennifer A. Bassetti; Julia Hoefele; Theresa Brunet; Korbinian M. Riedhammer; Houda Z. Elloumi; Richard Person; Fanggeng Zou; Juliette J. Kahle; Kirsten Cremer; Axel Schmidt; Marie-Ange Delrue; Pedro M. Almeida; Fabiana Ramos; Siddharth Srivastava; Aisling Quinlan; Stephen Robertson; Eva Manka; Alma Kuechler; Stephanie Spranger; Malgorzata J. M. Nowaczyk; Reem M. Elshafie; Hind Alsharhan; Paul R. Hillman; Leslie A. Dunnington; Hilde M. H. Braakman; Shane McKee; Angelica Moresco; Andrea-Diana Ignat; Ruth Newbury-Ecob; Guillaume Banneau; Olivier Patat; Jeffrey Kuerbitz; Susan Rzucidlo; Susan S. Sell; Patricia Gordon; Sarah Schuhmann; André Reis; Yosra Halleb; Radka Stoeva; Boris Keren; Zainab Al Masseri; Zeynep Tümer; Sophia Hammer-Hansen; Sofus Krüger Sølyst; Connolly G. Steigerwald; Nicolas J. Abreu; Helene Faust; Amica Müller-Nedebock; Frédéric Tran Mau-Them; Heinrich Sticht; Christiane Zweier
Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D,Newbury -Ecob , R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D,
Academic Journal
Jesse B G Hayesmoore; Ruth Newbury-Ecob; Sarah Durell; Amy Dillon; Farah Kanani; Fiona Beecroft; Joanna Jarvis; Deirdre Cilliers; Carl Fratter
Journal of Medical Genetics. 62:123-125
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
James Fasham; Rucha Pandit; Adam T Higgins; Dowon Kim; Karl Austin-Muttitt; Anna V Derrick; Robert Gunn; Maya Matty; Nicola Ragge; Kate E Chandler; Gabriela E Jones; Mohnish Suri; Alison Kraus; Tabib Dabir; Katrina Stone; Wendy D Jones; Julia Rankin; James A Poulter; Marilena Elpidorou; Eamonn Sheridan; Colin A. Johnson; Helen V Firth; Siddharth Banka; Ruth Newbury-Ecob; Neeti Ghali; Andrew J Green; Shelagh Joss; Sahar Mansour; Pradeep Vasudevan; Michael J Parker; Jonathan GL Mullins; Adam G Thomas; Seo-Kyung Chung; Abhijit Dixit
Academic Journal
Hildegard Nikki Hall; David Parry; Mihail Halachev; Kathleen A Williamson; Kevin Donnelly; Jose Campos Parada; Shipra Bhatia; Jeffrey Joseph; Simon Holden; Trine E Prescott; Pierre Bitoun; Edwin P Kirk; Ruth Newbury-Ecob; Katherine Lachlan; Juan Bernar; Veronica van Heyningen; David R FitzPatrick; Alison Meynert
J Med Genet
Hall, N, Parry, D A, Halachev, M, Williamson, K, Donnelly, K, Campos Parada, J, Bhatia, S, Joseph, J, Holden, S, Prescott, T E, Bitoun, P, Kirk, E,Newbury -Ecob , R, Lachlan, K, Bernar, J, Van Heyningen, V, FitzPatrick, D R & Meynert, A M 2023, ' Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2023-109181
Hall, N, Parry, D A, Halachev, M, Williamson, K, Donnelly, K, Campos Parada, J, Bhatia, S, Joseph, J, Holden, S, Prescott, T E, Bitoun, P, Kirk, E,
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. 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In Genetics in Medicine February 2024 26(2)
Academic Journal
Vanlerberghe, Clémence ; Frénois, Frédéric ; Smol, Thomas ; Jourdain, Anne-Sophie ; Escande, Fabienne ; Aït-Yahya, Emilie ; Aldeeri, Abdulrahman A. ; Yu, Timothy W. ; Cormier-Daire, Valérie ; Ghoumid, Jamal ; Jacob, Maureen ; Newbury-Ecob, Ruth ; Manouvrier, Sylvie ; Platon, Jessica ; Sailer, Sebastian ; Brunelle, Perrine ; Da Costa, Lydie ; Petit, Florence
In Genetics in Medicine December 2024 26(12)
Academic Journal
Copeland, Harriet ; Low, Karen J. ; Wynn, Sarah L. ; Ahmed, Ayesha ; Arthur, Victoria ; Balasubramanian, Meena ; Bennett, Katya ; Berg, Jonathan ; Bertoli, Marta ; Bryson, Lisa ; Bucknall, Catrin ; Campbell, Jamie ; Chandler, Kate ; Chauhan, Jaynee ; Clarkson, Amy ; Coles, Rachel ; Conti, Hector ; Costello, Philandra ; Coupar, Tessa ; Craig, Amy ; Dean, John ; Dillon, Amy ; Dixit, Abhijit ; Drew, Kathryn ; Eason, Jacqueline ; Forzano, Francesca ; Foulds, Nicola ; Gardham, Alice ; Ghali, Neeti ; Green, Andrew ; Hanna, William ; Harrison, Rachel ; Hegarty, Mairead ; Higgs, Jenny ; Holder, Muriel ; Irving, Rachel ; Jain, Vani ; Johnson, Katie ; Jolley, Rachel ; Jones, Wendy D. ; Jones, Gabriela ; Joss, Shelagh ; Kalinauskiene, Ruta ; Kanani, Farah ; Kavanagh, Karl ; Khan, Mahmudur ; Khan, Naz ; Kivuva, Emma ; Lahiri, Nayana ; Lakhani, Neeta ; Lampe, Anne ; Lynch, Sally Ann ; Mansour, Sahar ; Marsden, Alice ; Massey, Hannah ; McKee, Shane ; Mohammed, Shehla ; Naik, Swati ; Nesarajah, Mithushanaa ; Newbury-Ecob, Ruth ; Osborne, Fiona ; Parker, Michael J. ; Patterson, Jenny ; Pottinger, Caroline ; Prapa, Matina ; Prescott, Katrina ; Quinn, Shauna ; Radley, Jessica A. ; Robart, Sarah ; Ross, Alison ; Rosti, Giulia ; Sansbury, Francis H. ; Sarkar, Ajoy ; Searle, Claire ; Shannon, Nora ; Shears, Debbie ; Smithson, Sarah ; Stewart, Helen ; Suri, Mohnish ; Tadros, Shereen ; Theobald, Rachel ; Thomas, Rhian ; Tsoulaki, Olga ; Vasudevan, Pradeep ; Rodriguez, Maribel Verdesoto ; Vittery, Emma ; Whyte, Sinead ; Woods, Emily ; Wright, Thomas ; Zocche, David ; Firth, Helen V. ; Wright, Caroline F.
In Genetics in Medicine Open 2024 2
Conference
Vanlerberghe, Clémence; Frénois, Frédéric; Smol, Thomas; Jourdain, Anne-Sophie; Escande, Fabienne; Ait Yahya, Emilie; Aldeeri, Abdulrahman; Yu, Timothy; Cormier-Daire, Valérie; Ghoumid, Jamal; Newbury-Ecob, Ruth; Manouvrier-Hanu, Sylvie; Platon, Jessica; Sailer, Sebastian; Brunelle, Perrine; Da Costa, Lydie; Petit, Florence
Academic Journal
Ashish R Deshwar; Cheryl Cytrynbaum; Harsha Murthy; Jessica Zon; David Chitayat; Jonathan Volpatti; Ruth Newbury-Ecob; Sian Ellard; Hana Lango Allen; Emily P Yu; Ramil Noche; Suzi Walker; Stephen W Scherer; Sonal Mahida; Christopher M Elitt; Gaël Nicolas; Alice Goldenberg; Pascale Saugier-Veber; Francois Lecoquierre; Ivana Dabaj; Hannah Meddaugh; Michael Marble; Kim M Keppler-Noreuil; Lucy Drayson; Kristin W Barañano; Anna Chassevent; Katie Agre; Pascaline Létard; Frederic Bilan; Gwenaël Le Guyader; Annie Laquerrière; Keri Ramsey; Lindsay Henderson; Lauren Brady; Mark Tarnopolsky; Matthew Bainbridge; Jennifer Friedman; Yline Capri; Larissa Athayde; Fernando Kok; Juliana Gurgel-Giannetti; Luiza L P Ramos; Susan Blaser; James J Dowling; Rosanna Weksberg
Brain. 146:2285-2297
Academic Journal
Beau D. E. Janssen; Marie‐Jose H. van den Boogaard; Klaske Lichtenbelt; Eleanor G. Seaby; Karen Stals; Sian Ellard; Ruth Newbury‐Ecob; Abhijit Dixit; Laura Roht; Sander Pajusalu; Katrin Õunap; Helen V. Firth; Michael Buckley; Meredith Wilson; Tony Roscioli; Timothy Tidwell; Rong Mao; Sarah Ennis; Sjoerd J. Holwerda; Koen van Gassen; Richard H. van Jaarsveld
Hum Mutat
Academic Journal
Schaida Schirwani; Shadi Albaba; Deanna Alexis Carere; Maria J. Guillen Sacoto; Francisca Milan Zamora; Yue Si; Rachel Rabin; John Pappas; Deborah L. Renaud; Natalie Hauser; Evan Reid; Patricia Blanchet; Nichola Foulds; Abhijit Dixit; Richard Fisher; Ruth Armstrong; Bertrand Isidor; Benjamin Cogne; Samantha Schrier Vergano; Serwet Demirdas; Natalie Dykzeul; Julie S. Cohen; Katheryn Grand; Dayna Morel; Anne Slavotinek; Hessa F. Albassam; Swati Naik; John Dean; Nicola Ragge; Cinzia Costa; Maria Giovanna Tedesco; Rachel E. Harrison; Arjan Bouman; Emily Palen; Thomas D. Challman; Marjolein H. Willemsen; Julie Vogt; Christopher Cunniff; Katherine Bergstrom; Jagdeep S. Walia; Ange‐Line Bruel; Usha Kini; Fowzan S. Alkuraya; Valerie Slegesky; Naomi Meeks; Paula Girotto; Diana Johnson; Ruth Newbury‐Ecob; Charlotte W. Ockeloen; Paolo Prontera; Sally Ann Lynch; Dong Li; John M. Graham; Tyler Mark Pierson; Meena Balasubramanian
American Journal of Medical Genetics. Part A, 185, 11, pp. 3446-3458
Academic Journal
9 Med., Health Care & Phil. 33 (2006) / Medicine, Health Care and Philosophy, Vol. 9, Issue 1 (March 2006), pp. 33-42
Academic Journal
Harriet Copeland; Karen J Low; Sarah Wynn; Ayesha Ahmed; Victoria Arthur; Meena Balasubramanian; Katya Bennett; Jonathan Berg; Marta Bertoli; Lisa Bryson; Catrin Bucknall; Jamie Campbell; Kate Chandler; Jaynee Chauhan; Amy Clarkson; Rachel Coles; Hector Conti; Philandra Costello; Tessa Coupar; Amy Craig; John Dean; Amy Dillon; Abhijit Dixit; Kathryn Drew; Jacqueline Eason; Francesca Forzano; Nicky Foulds; Alice Gardham; Neeti Ghali; Andrew Green; William Hanna; Rachel Harrison; Mairead Hegarty; Jenny Higgs; Muriel Holder; Rachel Irving; Vani Jain; Katie Johnson; Rachel Jolley; Wendy Jones; Gabriela Jones; Shelagh Joss; Ruta Kalinauskiene; Farah Kanini; Karl Kavanagh; Mahmudur Khan; Naz Khan; Emma Kivuva; Nayana Lahiri; Neeta Lakhani; Anne Lampe; Sally Ann Lynch; Sahar Mansour; Alice Marsden; Hannah Massey; Shane McKee; Shehla Mohammed; Swati Naik; Mithushanaa Nesarajah; Ruth Newbury-Ecob; Fiona Osborne; Michael J Parker; Jenny Patterson; Caroline Pottinger; Matina Prapa; Katrina Prescott; Shauna Quinn; Jessica A Radley; Sarah Robart; Alison Ross; Giulia Rosti; Francis Sansbury; Ajoy Sarkar; Claire Searle; Nora Shannon; Debbie Shears; Sarah Smithson; Helen Stewart; Mohnish Suri; Shereen Tadros; Rachel Theobald; Rhian Thomas; Olga Tsoulaki; Pradeep Vasudevan; Maribel Verdesoto; Emma Vittery; Sinead Whyte; Emily Woods; Thomas Wright; David Zocche; Helen V Firth; Caroline F Wright
The DDD Study, Copeland, H, Low, K J, Wynn, S, Ahmed, A, Arthur, V, Balasubramanian, M, Bennett, K, Berg, J, Bertoli, M, Bryson, L, Bucknall, C, Campbell, J, Chandler, K, Chauhan, J, Clarkson, A, Coles, R, Conti, H, Costello, P, Coupar, T, Craig, A, Dean, J, Dillon, A, Dixit, A, Drew, K, Eason, J, Forzano, F, Foulds, N, Gardham, A, Ghali, N, Hanna, W, Harrison, R, Hegarty, M, Higgs, J, Holder, M, Irving, R, Jain, V, Johnson, K, Jolley, R, Jones, W, Jones, G, Joss, S, Kalinauskiene, R, Kanini, F, Kavanagh, K, Khan, M, Khan, N, Kivuva, E, Lahiri, N, Lakhani, N & Wright, T 2023 'Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders' medRxiv, pp. 1-23. https://doi.org/10.1101/2023.10.18.23297202
Academic Journal
Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick J. Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R. F. Reijnders; Alison Yeung; Helger G. Yntema; Silvia Borras; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper-Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai-Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury-Ecob; Andrew M. Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo-Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw-Smith; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela Pilz; Edward Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane Hurst; Lucy Jenkins; Wendy Jones; V. K. Ajith Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard Scott; Louise Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy Briggs; Emma Burkitt-Wright; Kate Chandler; Jill Clayton-Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard Gibbons; Usha Kini; Tracy Lester; Andrea Nemeth; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; Alison Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton-Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian Sampson; Francis Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E. L. M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Academic Journal
Balasubramanian, Meena; Dingemans, Alexander J. M.; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M.; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H.; Burke, Katherine B.; Fry, Andrew E.; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S.; Vincent, Marie; Isidor, Bertrand; Küry, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K.; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M.; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske
European Journal of Human Genetics. 29(4):625-636
Academic Journal
Anna Durkin; Shadi Albaba; Andrew E. Fry; Jenny E. Morton; Andrew Douglas; Ana Beleza; Denise Williams; Catharina M.L. Volker‐Touw; Sally A. Lynch; Natalie Canham; Virginia Clowes; Volker Straub; Katherine Lachlan; Frances Gibbon; Mayy El Gamal; Vinod Varghese; Michael J. Parker; Ruth Newbury‐Ecob; Peter D. Turnpenny; Alice Gardham; Neeti Ghali; Meena Balasubramanian
American Journal of Medical Genetics Part A. 182:1637-1654
Academic Journal
Kennedy, Joanna ; Goudie, David ; Blair, Edward ; Chandler, Kate ; Joss, Shelagh ; McKay, Victoria ; Green, Andrew ; Armstrong, Ruth ; Lees, Melissa ; Kamien, Benjamin ; Hopper, Bruce ; Tan, Tiong Yang ; Yap, Patrick ; Stark, Zornitza ; Okamoto, Nobuhiko ; Miyake, Noriko ; Matsumoto, Naomichi ; Macnamara, Ellen ; Murphy, Jennifer L. ; McCormick, Elizabeth ; Hakonarson, Hakon ; Falk, Marni J. ; Li, Dong ; Blackburn, Patrick ; Klee, Eric ; Babovic-Vuksanovic, Dusica ; Schelley, Susan ; Hudgins, Louanne ; Kant, Sarina ; Isidor, Bertrand ; Cogne, Benjamin ; Bradbury, Kimberley ; Williams, Mark ; Patel, Chirag ; Heussler, Helen ; Duff-Farrier, Celia ; Lakeman, Phillis ; Scurr, Ingrid ; Kini, Usha ; Elting, Mariet ; Reijnders, Margot ; Schuurs-Hoeijmakers, Janneke ; Wafik, Mohamed ; Blomhoff, Anne ; Ruivenkamp, Claudia A.L. ; Nibbeling, Esther ; Dingemans, Alexander J.M. ; Douine, Emilie D. ; Nelson, Stanley F. ; Hempel, Maja ; Bierhals, Tatjana ; Lessel, Davor ; Johannsen, Jessika ; Arboleda, Valerie A. ; Newbury-Ecob, Ruth
In Genetics in Medicine April 2019 21(4):850-860
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