학술논문
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'학술논문'
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1~20
Academic Journal
Elhassan E. A. E.; Collins K. E.; Heneghan S.; Gilbert E.; Yang H.; Senum S. R.; Schauer R. S.; Elbarougy D. E.; Madden S. F.; Murray S. L.; Sadeghi-Alavijeh O.; Carmichael J.; Gale D.; Osman S. M.; Kennedy C.; Griffin M. D.; Casserly L.; Moloney B.; O'Hara P.; Mallawaarachchi A.; Ciurli F.; Wood S. M.; Witkowska K.; Williams E.; Welland M. J.; Walsh E.; Tucci A.; Thompson S. R.; Thomas E. R. A.; Tanguy M.; Stuckey A.; Sosinsky A.; Smith S. C.; Sieghart A.; Siddiq A.; Scott R. H.; Sawant K.; Savage K.; Rogers T.; Rendon A.; Rahim T.; Pullinger J.; Pereira M. B.; Perez-Gil D.; Patch C.; Odhams C. A.; O'Donovan P.; Need A. C.; Murugaesu N.; Mueller M.; Moutsianas L.; Maleady-Crowe F.; Lopez J. F.; Leong I. U. S.; Leigh S. E. A.; Lahnstein L.; Kousathanas A.; Kayikci M.; Kasperaviciute D.; Jones L. J.; Jackson R.; Hubbard T. J. P.; Henderson S.; Hamblin A.; Giess A.; Fowler T.; Chan G. C.; Caulfield M. J.; Brittain H.; Boustred C. R.; Boardman-Pretty F.; Bleda M.; Arumugam P.; Ambrose J. C.; Graziano C.; Wolff C. A.; Schonauer R.; La Manna G.; Durand A.; Limou S.; Halbritter J.; Capelli I.; McCann E.; Harris P. C.; Cavalleri G. L.; Benson K. A.; Conlon P. J.
J Nephrol
Academic Journal
Eijsbouts, C; Zhen, T; Kennedy, NA; Bonfiglio, F; Anderson, CA; Moutsianas, L; Holliday, J; Shi, J; Shringarpure, S; Voda, A-L
NATURE GENETICS. 53(11):1543-1552
Academic Journal
Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossée, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William; Wierenga, Klaas; Klee, Eric; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel; Ambrose, J; Arumugam, P; Baple, E; Bleda, M; Boardman-Pretty, F; Boissiere, J; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Craig, C; Daugherty, L; de Burca, A; Devereau, A; Elgar, G; Foulger, R; Fowler, T; Furió-Tarí, P; Hackett, J; Halai, D; Hamblin, A; Henderson, S; Holman, J; Hubbard, T; Ibáñez, K; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Lahnstein, L; Lawson, K; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Mason, J; Mcdonagh, E; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; Odhams, C; 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; Siddiq, A; Sieghart, A; Smedley, D; Smith, K; Sosinsky, A; Spooner, W; Stevens, H; Stuckey, A; Sultana, R; Thomas, E; Thompson, S; Tregidgo, C; Tucci, A; Walsh, E; Watters, S; Welland, M; Williams, E; Witkowska, K; Wood, S; Zarowiecki, M
Brain. 147:3681-3689
Academic Journal
Kraemer, Moritz U. G.; Tsui, Joseph L.-H.; Chang, Serina Y.; Lytras, Spyros; Khurana, Mark P.; Vanderslott, Samantha; Bajaj, Sumali; Scheidwasser, Neil; Curran-Sebastian, Jacob Liam; Semenova, Elizaveta; Zhang, Mengyan; Unwin, H. Juliette T.; Watson, Oliver J.; Mills, Cathal; Dasgupta, Abhishek; Ferretti, Luca; Scarpino, Samuel V.; Koua, Etien; Morgan, Oliver; Tegally, Houriiyah; Paquet, Ulrich; Moutsianas, Loukas; Fraser, Christophe; Ferguson, Neil M.; Topol, Eric J.; Duchêne, David A.; Stadler, Tanja; Kingori, Patricia; Parker, Michael J.; Dominici, Francesca; Shadbolt, Nigel; Suchard, Marc A.; Ratmann, Oliver; Flaxman, Seth; Holmes, Edward C.; Gomez-Rodriguez, Manuel; Schölkopf, Bernhard; Donnelly, Christl A.; Pybus, Oliver G.; Cauchemez, Simon; Bhatt, Samir
Nature: International weekly journal of science. 638(8051):623-635
Academic Journal
Natalia Dominik; Stefania Magri; Riccardo Currò; Elena Abati; Stefano Facchini; Marinella Corbetta; Hannah Macpherson; Daniela Di Bella; Elisa Sarto; Igor Stevanovski; Sanjog R Chintalaphani; Fulya Akcimen; Arianna Manini; Elisa Vegezzi; Ilaria Quartesan; Kylie-Ann Montgomery; Valentina Pirota; Emmanuele Crespan; Cecilia Perini; Glenda Paola Grupelli; Pedro J Tomaselli; Wilson Marques; J C Ambrose; P Arumugam; E L Baple; M Bleda; F Boardman-Pretty; J M Boissiere; C R Boustred; H Brittain; M J Caulfield; G C Chan; C E H Craig; L C Daugherty; A de Burca; A Devereau; G Elgar; R E Foulger; T Fowler; P Furió-Tarí; E Gustavsson; J M Hackett; D Halai; A Hamblin; S Henderson; J E Holman; T J P Hubbard; K Ibáñez; R Jackson; L J Jones; D Kasperaviciute; M Kayikci; L Lahnstein; K Lawson; S E A Leigh; I U S Leong; F J Lopez; F Maleady-Crowe; J Mason; E M McDonagh; L Moutsianas; M Mueller; N Murugaesu; A C Need; C A Odhams; C Patch; D Perez-Gil; D Polychronopoulos; J Pullinger; T Rahim; A Rendon; P Riesgo-Ferreiro; T Rogers; M Ryten; B Rugginini; K Savage; K Sawant; R H Scott; A Siddiq; A Sieghart; D Smedley; K R Smith; A Sosinsky; W Spooner; H E Stevens; A Stuckey; R Sultana; E R A Thomas; S R Thompson; C Tregidgo; A Tucci; E Walsh; S A Watters; M J Welland; E Williams; K Witkowska; S M Wood; M Zarowiecki; Joseph Shaw; James Polke; Ettore Salsano; Silvia Fenu; Davide Pareyson; Chiara Pisciotta; George K Tofaris; Andrea H Nemeth; John Ealing; Aleksandar Radunovic; Seamus Kearney; Kishore R Kumar; Steve Vucic; Marina Kennerson; Mary M Reilly; Henry Houlden; Ira Deveson; Arianna Tucci; Franco Taroni; Andrea Cortese
Brain
Academic Journal
Ambrose, J.C. ; Arumugam, P. ; Bevers, R. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Brown, M.A.; Caulfield, M.J. ; Chan, G.C. ; Giess, A. ; Griffin, J.N.; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Lakey, A.; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; McEntagart, M. ; Minneci, F. ; Mitchell, J. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Taylor Tavares, A.L. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Zarowiecki, M. ; Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo ; Thomas, N. Simon ; Ashton, James J. ; Stafford, Imogen ; Baralle, Diana ; Rehm, Heidi L. ; O’Donnell-Luria, Anne ; Ennis, Sarah
In Genetics in Medicine April 2024 26(4)
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
COVID-19 Host Genetics Initiative; Pathak, GA; Karjalainen, J; Stevens, C; Neale, BM; Daly, M; Ganna, A; Andrews, SJ; Kanai, M; Cordioli, M; Polimanti, R; Harerimana, N; Pirinen, M; Liao, RG; Chwialkowska, K; Trankiem, A; Balaconis, MK; Nguyen, H; Solomonson, M; Veerapen, K; Wolford, B; Roberts, G; Park, D; Ball, CA; Coignet, M; McCurdy, S; Knight, S; Partha, R; Rhead, B; Zhang, M; Berkowitz, N; Gaddis, M; Noto, K; Ruiz, L; Pavlovic, M; Hong, EL; Rand, K; Girshick, A; Guturu, H; Baltzell, AH; Niemi, MEK; Rahmouni, S; Guntz, J; Beguin, Y; Pigazzini, S; Nkambule, L; Georges, M; Moutschen, M; Misset, B; Darcis, G; Guiot, J; Azarzar, S; Gofflot, S; Claassen, S; Malaise, O; Huynen, P; Meuris, C; Thys, M; Jacques, J; Leonard, P; Frippiat, F; Giot, J-B; Sauvage, A-S; Frenckell, CV; Belhaj, Y; Lambermont, B; Nakanishi, T; Morrison, DR; Mooser, V; Richards, JB; Butler-Laporte, G; Forgetta, V; Li, R; Ghosh, B; Laurent, L; Belisle, A; Henry, D; Abdullah, T; Adeleye, O; Mamlouk, N; Kimchi, N; Afrasiabi, Z; Rezk, N; Vulesevic, B; Bouab, M; Guzman, C; Petitjean, L; Tselios, C; Xue, X; Afilalo, J; Afilalo, M; Oliveira, M; Brenner, B; Brassard, N; Durand, M; Schurr, E; Lepage, P; Ragoussis, J; Auld, D; Chassé, M; Kaufmann, DE; Lathrop, GM; Adra, D; Hayward, C; Glessner, JT; Shaw, DM; Campbell, A; Morris, M; Hakonarson, H; Porteous, DJ; Below, J; Richmond, A; Chang, X; Polikowski, H; Lauren, PE; Chen, H-H; Wanying, Z; Fawns-Ritchie, C; North, K; McCormick, JB; Glessner, JR; Gignoux, CR; Wicks, SJ; Crooks, K; Barnes, KC; Daya, M; Shortt, J; Rafaels, N; Chavan, S; Timmers, PRHJ; Wilson, JF; Tenesa, A; Kerr, SM; D’Mellow, K; Shahin, D; El-Sherbiny, YM; von Hohenstaufen, KA; Sobh, A; Eltoukhy, MM; Nkambul, L; Elhadidy, TA; Abd Elghafar, MS; El-Jawhari, JJ; Mohamed, AAS; Elnagdy, MH; Samir, A; Abdel-Aziz, M; Khafaga, WT; El-Lawaty, WM; Torky, MS; El-shanshory, MR; Yassen, AM; Hegazy, MAF; Okasha, K; Eid, MA; Moahmed, HS; Medina-Gomez, C; Ikram, MA; Uitterlinden, AG; Mägi, R; Milani, L; Metspalu, A; Laisk, T; Läll, K; Lepamets, M; Esko, T; Reimann, E; Naaber, P; Laane, E; Pesukova, J; Peterson, P; Kisand, K; Tabri, J; Allos, R; Hensen, K; Starkopf, J; Ringmets, I; Tamm, A; Kallaste, A; Alavere, H; Metsalu, K; Puusepp, M; Batini, C; Tobin, MD; Venn, LD; Lee, PH; Shrine, N; Williams, AT; Guyatt, AL; John, C; Packer, RJ; Ali, A; Free, RC; Wang, X; Wain, LV; Hollox, EJ; Bee, CE; Adams, EL; Palotie, A; Ripatti, S; Ruotsalainen, S; Kristiansson, K; Koskelainen, S; Perola, M; Donner, K; Kivinen, K; Kaunisto, M; Rivolta, C; Bochud, P-Y; Bibert, S; Boillat, N; Nussle, SG; Albrich, W; Quinodoz, M; Kamdar, D; Suh, N; Neofytos, D; Erard, V; Voide, C; Friolet, R; Vollenweider, P; Pagani, JL; Oddo, M; zu Bentrup, FM; Conen, A; Clerc, O; Marchetti, O; Guillet, A; Guyat-Jacques, C; Foucras, S; Rime, M; Chassot, J; Jaquet, M; Viollet, RM; Lannepoudenx, Y; Portopena, L; Bochud, PY; Desgranges, F; Filippidis, P; Guéry, B; Haefliger, D; Kampouri, EE; Manuel, O; Munting, A; Papadimitriou-Olivgeris, M; 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Nature
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Nature (Lond.) 608 (2022): E1–E10. doi:10.1038/s41586-022-04826-7
info:cnr-pdr/source/autori:Pathak, Gita A.; Karjalainen, Juha; Stevens, Christine; Neale, Benjamin M.; Daly, Mark; Ganna, Andrea; Andrews, Shea J.; Kanai, Masahiro; Cordioli, Mattia; Polimanti, Renato; Harerimana, Nadia; Pirinen, Matti; Liao, Rachel G.; Chwialkowska, Karolina; Trankiem, Amy; Balaconis, Mary K.; Nguyen, Huy; Solomonson, Matthew; Veerapen, Kumar; Wolford, Brooke; Roberts, Genevieve; Park, Danny; Ball, Catherine A.; Coignet, Marie; McCurdy, Shannon; Knight, Spencer; Partha, Raghavendran; Rhead, Brooke; Zhang, Miao; Berkowitz, Nathan; Gaddis, Michael; Noto, Keith; Ruiz, Luong; Pavlovic, Milos; Hong, EurieL .; Rand, Kristin; Girshick, Ahna; Guturu, Harendra; Baltzell, Asher Haug; Niemi, Mari E.K.; Rahmouni, Souad; Guntz, Julien; Beguin, Yves; Pigazzini, Sara; Nkambule, Lindokuhle; Georges, Michel; Moutschen, Michel; Misset, Benoit; Darcis, Gilles; Guiot, Julien; Azarzar, Samira; Gofflot, Stéphanie; Claassen, Sabine; Malaise, Olivier; Huynen, Pascale; Meuris, Christelle; Thys, Marie; Jacques, Jessica; Léonard, Philippe; Frippiat, Frederic; Giot, Jean Baptiste; Sauvage, Anne Sophie; Von Frenckell, Christian; Belhaj, Yasmine; Lambermont, Bernard; Nakanishi, Tomoko; Morrison, David R.; Mooser, Vincent; Richards, J. Brent; Butler-Laporte, Guillaume; Forgetta, Vincenzo; Li, Rui; Ghosh, Biswarup; Laurent, Laetitia; Belisle, Alexandre; Henry, Danielle; Abdullah, Tala; Adeleye, Olumide; Mamlouk, Noor; Kimchi, Nofar; Afrasiabi, Zaman; Rezk, Nardin; Vulesevic, Branka; Bouab, Meriem; Guzman, Charlotte; Petitjean, Louis; Tselios, Chris; Xue, Xiaoqing; Afilalo, Jonathan; Afilalo, Marc; Oliveira, Maureen; Brenner, Bluma; Brassard, Nathalie; Durand, Madeleine; Schurr, Erwin; Lepage, Pierre; Ragoussis, Jiannis; Auld, Daniel; Chassé, Michaël; Kaufmann, Daniel E./titolo:A first update on mapping the human genetic architecture of COVID-19/doi:10.1038%2Fs41586-022-04826-7/rivista:Nature (Lond.)/anno:2022/pagina_da:E1/pagina_a:E10/intervallo_pagine:E1–E10/volume:608
Nature, vol. 608, no. 7921, pp. E1-E10
2022, ' A first update on mapping the human genetic architecture of COVID-19 ', Nature, vol. 608, no. 7921, pp. E1-E10 . https://doi.org/10.1038/s41586-022-04826-7
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Nature (Lond.) 608 (2022): E1–E10. doi:10.1038/s41586-022-04826-7
info:cnr-pdr/source/autori:Pathak, Gita A.; Karjalainen, Juha; Stevens, Christine; Neale, Benjamin M.; Daly, Mark; Ganna, Andrea; Andrews, Shea J.; Kanai, Masahiro; Cordioli, Mattia; Polimanti, Renato; Harerimana, Nadia; Pirinen, Matti; Liao, Rachel G.; Chwialkowska, Karolina; Trankiem, Amy; Balaconis, Mary K.; Nguyen, Huy; Solomonson, Matthew; Veerapen, Kumar; Wolford, Brooke; Roberts, Genevieve; Park, Danny; Ball, Catherine A.; Coignet, Marie; McCurdy, Shannon; Knight, Spencer; Partha, Raghavendran; Rhead, Brooke; Zhang, Miao; Berkowitz, Nathan; Gaddis, Michael; Noto, Keith; Ruiz, Luong; Pavlovic, Milos; Hong, Eurie
Nature, vol. 608, no. 7921, pp. E1-E10
2022, ' A first update on mapping the human genetic architecture of COVID-19 ', Nature, vol. 608, no. 7921, pp. E1-E10 . https://doi.org/10.1038/s41586-022-04826-7
Academic Journal
Ambrose, J. C. ; Arumugam, P. ; Bevers, R. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C. R. ; Brittain, H. ; Brown, M. A.; Caulfield, M. J. ; Chan, G. C. ; Giess, A. ; Griffin, J. N.; Hamblin, A. ; Henderson, S. ; Hubbard, T. J. P. ; Jackson, R. ; Jones, L. J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Lakey, A.; Leigh, S. E. A. ; Leong, I. U. S. ; Lopez, F. J. ; Maleady-Crowe, F. ; McEntagart, M. ; Minneci, F. ; Mitchell, J. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A. C. ; O‘Donovan, P. ; Odhams, C. A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M. B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R. H. ; Siddiq, A. ; Sieghart, A. ; Smith, S. C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Taylor Tavares, A. L. ; Thomas, E. R. A. ; Thompson, S. R. ; Tucci, A. ; Welland, M. J. ; Williams, E. ; Witkowska, K. ; Wood, S. M. ; Zarowiecki, M. ; Cheloor Kovilakam, Sruthi ; Gu, Muxin ; Dunn, William G. ; Marando, Ludovica ; Barcena, Clea ; Nik-Zainal, Serena ; Mohorianu, Irina ; Kar, Siddhartha P. ; Fabre, Margarete A. ; Quiros, Pedro M. ; Vassiliou, George S.
In Blood 5 October 2023 142(14):1185-1192
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. 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In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
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Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 10, pp. 2079-2090
Genetics in Medicine, 24, 10, pp. 2079-2090
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Moutsianas, L; Jostins, L; Beecham, AH; Dilthey, AT; Xifara, DK; Ban, M; Shah, TS; Patsopoulos, NA; Alfredsson, L; Anderson, CA
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Nature (Lond.) 591 (2021): 92–98. doi:10.1038/s41586-020-03065-y
info:cnr-pdr/source/autori:Pairo-Castineira E.; Clohisey S.; KlaricL .; Bretherick A.D.; Rawlik K.; Pasko D.; Walker S.; Parkinson N.; Fourman M.H.; Russell C.D.; Furniss J.; Richmond A.; Gountouna E.; Wrobel N.; Harrison D.; Wang B.; Wu Y.; Meynert A.; Griffiths F.; Oosthuyzen W.; Kousathanas A.; Moutsianas L .; Yang Z.; Zhai R.; Zheng C.; Grimes G.; Beale R.; Millar J.; Shih B.; Keating S.; Zechner M.; Haley C.; Porteous D.J.; Hayward C.; Yang J.; Knight J.; Summers C.; Shankar-Hari M.; Klenerman P.; Turtle L .; Ho A.; Moore S.C.; Hinds C.; Horby P.; Nichol A.; Maslove D.; Ling L .; McAuley D.; Montgomery H.; Walsh T.; Pereira A.C.; Renieri A.; Millar J.; Nichol A.; Walsh T.; Shankar-Hari M.; Ponting C.; Meikle J.; Finernan P.; Mcmaster E.; Law A.; Baillie J.K.; Paterson T.; Wackett T.; Armstrong R.; Clark R.; Coutts A.; Donnelly L .; Gilchrist T.; Hafezi K.; Macgillivray L .; Maclean A.; McCafferty S.; Morrice K.; Weaver J.; Boz C.; Golightly A.; Ward M.; Mal H.; Szoor-McElhinney H.; 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Baines B.; Frise M.; Jacques N.; Coles H.; Caterson J.; Rai S.G.; Brunton M.; Tilney E.; Keating L .; Walden A.; Antcliffe D.; Brett S.; Gordon A.; Templeton M.; Rojo R.; Banach D.; Arias S.S.; Fernandez Z.; Coghlan P.; Williams D.; Jardine C.; Bewley J.; Sweet K.; Grimmer L .; Johnson R.; Garland Z.; Gumbrill B.; Phillips C.; Ortiz-Ruiz de Gordoa L .; Peasgood E.; Tridente A.; Shuker K.; Greer S.; Lynch C.; Pothecary C.; Roche L .; Deacon B.; Turner K.; Singh J.; Howe G.S.; Paul P.; Gill M.; Wynter I.; Ratnam V.; Shelton S.; Naisbitt J.; Melville J.; Baruah R.; Morrison S.; McGregor A.; Parris V.; Mpelembue M.; Srikaran S.; Dennis C.; Sukha A.; Williams A.; Verlander M.; Holding K.; Riches K.; Downes C.; Swan C.; Rostron A.; Roy A.; Woods L .; Cornell S.; Wakinshaw F.; Creagh-Brown B.; Blackman H.; Salberg A.; Smith E.; Donlon S.; Mtuwa S.; Michalak-Glinska N.; Stone S.; Beazley C.; Pristopan V.; Nikitas N.; Lankester L .; Wells C.; Raj A.S.; Fletcher K.; Khade R.; Tsinaslanidis G.; MacMahon M.; 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NATURE
Pairo-Castineira, E, Clohisey, S, Klaric,L , Bretherick, A, Rawlik, K, Parkinson, N, Pasko, D, Walker, S, Richmond, A, Fourman, M H, Law, A, Furniss, J, Gountouna, E, Wrobel, N, Russell, C D, Moutsianas , L , Wang, B, Meynert, A M, Yang, Z, Zhai, R, Zheng, C, Griffith, F, Oosthuyzen, W, Shih, B, Keating, S, Zechner, M, Haley, C S, Porteous, D, Hayward, C, Knight, J, Summers, C, Shankar-Hari, M, Turtle, L , Ho, A, Hinds, C, Horby, P, Nichol, A, Maslove, D M, Ling, L , Klenerman, P, McAuley, D F, Montgomery, H E, Walsh, T S, Shen, X, Rowan, K, Fawkes, A, Murphy, L , Ponting, C P, Tenesa, A & Caulfield, M & Scott, R & Openshaw, P & Semple, M G & Vitart, V & Wilson, J & Baillie, J K 2020, ' Genetic mechanisms of critical illness in Covid-19 ', Nature, vol. n/a, n/a . https://doi.org/10.1038/s41586-020-03065-y
GenOMICC Investigators & Hughes, G 2021, ' Genetic mechanisms of critical illness in COVID-19 ', Nature, vol. 591, 7848, pp. 92-98 . https://doi.org/10.1038/s41586-020-03065-y
Nature
info:cnr-pdr/source/autori:Pairo-Castineira E.; Clohisey S.; Klaric
NATURE
Pairo-Castineira, E, Clohisey, S, Klaric,
GenOMICC Investigators & Hughes, G 2021, ' Genetic mechanisms of critical illness in COVID-19 ', Nature, vol. 591, 7848, pp. 92-98 . https://doi.org/10.1038/s41586-020-03065-y
Nature
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Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Brittain, H.; 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.; Furió-Tarí, 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.; Maleady-Crowe, 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.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa ; Rocca, Clarissa ; Zhelcheska, Kristina ; Cipriani, Valentina ; Galanaki, Evangelia ; Maroofian, Reza ; Efthymiou, Stephanie ; Murphy, David ; O’Driscoll, Mary ; Suri, Mohnish ; Banka, Siddharth ; Clayton-Smith, Jill ; Wright, Thomas ; Redman, Melody ; Bassetti, Jennifer A. ; Nizon, Mathilde ; Cogne, Benjamin ; Jamra, Rami Abu ; Bartolomaeus, Tobias ; Heruth, Marion ; Krey, Ilona ; Gburek-Augustat, Janina ; Wieczorek, Dagmar ; Gattermann, Felix ; Mcentagart, Meriel ; Goldenberg, Alice ; Guyant-Marechal, Lucie ; Garcia-Moreno, Hector ; Giunti, Paola ; Chabrol, Brigitte ; Bacrot, Severine ; Buissonnière, Roger ; Magry, Virginie ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Melegh, Béla ; Szabó, András ; Sümegi, Katalin ; Cossée, Mireille ; Ziff, Monica ; Butterfield, Russell ; Hunt, David ; Bird-Lieberman, Georgina ; Hanna, Michael ; Koenig, Michel ; Stankewich, Michael ; Vandrovcova, Jana ; Houlden, Henry
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Genet Med
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Nat Cardiovasc Res
Nature cardiovascular research 1(2), 157-173 (2022). doi:10.1038/s44161-022-00018-8
Nature cardiovascular research 1(2), 157-173 (2022). doi:10.1038/s44161-022-00018-8
Academic Journal
Iqbal, Maria; Maroofian, Reza; Çavdarli, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal; Li, Yun; Hertecant, Jozef; Baig, Shahid; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair; Jackson, Adam; Douzgou, Sofia; Ambrose, J; Arumugam, P; Bleda, M; Boardman-Pretty, F; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, T; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; O’donovan, P; Odhams, C; Patch, C; Perez-Gil, D; Pereira, M; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, R; Siddiq, A; Sieghart, A; Smith, S; Sosinsky, A; Stuckey, A; Tanguy, M; Thomas, E; Thompson, S; Tucci, A; Walsh, E; Welland, M; Williams, E; Witkowska, K; Wood, S; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid; Sultan, Tipu; Alvi, Javeria; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan; Osmond, Matthew; Hussain, Muhammad; Yigit, Gökhan
Genet Med
Genomics England Research Consortium 2021, 'Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01260-4
Genetics in Medicine
Genomics England Research Consortium 2021, 'Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01260-4
Genetics in Medicine
Academic Journal
Pagnamenta, AT; Jackson, A; Perveen, R; Beaman, G; Petts, G; Gupta, A; Hyder, Z; Chung, BH; Kan, AS; Cheung, KW; Kerstjens‐Frederikse, WS; Abbott, KM; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman‐Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Elgar, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, JF; Maleady‐Crowe, F; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O′Donovan, P; Odhams, CA; Patch, C; Pereira, MB; Perez‐Gil, D; Pullinger, J; Rahim, T
Genomics England Res Consortium 2022, 'Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects', Clinical Genetics, vol. 101, no. 1, pp. 127-133. https://doi.org/10.1111/cge.14071
Clinical Genetics
Clinical Genetics
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