학술논문
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'학술논문'
에서 검색결과 435건 | 목록
1~20
Academic Journal
Hoben, Matthias; Ubell, Andrea; Maxwell, Colleen J.; Allana, Saleema; Doupe, Malcolm B.; Symonds-Brown, Holly; Hogan, David B.; Daly, Tamara; Tate, Kaitlyn C.; Wagg, Adrian; Nguyen, Hung; Berta, Whitney; Bethell, Jennifer; Caspar, Sienna; Goodarzi, Zahra; McGrail, Kimberlyn; Cummings, Greta G.; Rowe, Melanie; Kay, Kelly; Kostyk, Patricia; Lazaruk, Kevin; MacLean, Barbara; Mann, Jim; Prescott, Katrina
BMC Public Health. 25(1)
Academic Journal
Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna EL; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander JM; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike PG; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; CARRIERS Consortium; Breast Cancer Association Consortium; ENIGMA Consortium; Spurdle, Amanda B
Academic Journal
Johnatty, Sharon E. ; Tudini, Emma ; Parsons, Michael T. ; Michailidou, Kyriaki ; Zanti, Maria ; Canson, Daffodil M. ; Davidson, Aimee L. ; Berger, Tamar ; Rosti, Rasim Ozgur ; Kratz, Christian P. ; Kalb, Reinhard ; McReynolds, Lisa J. ; Giri, Neelam ; Richardson, Marcy E. ; Pesaran, Tina ; Surrallés, Jordi ; Pujol, Roser ; Vundinti, Babu Rao ; George, Merin ; Maxwell, Kara N. ; Nathanson, Kate ; Domchek, Susan ; Fiesco-Roa, Moisés Ó. ; Frias, Sara ; García-de-Teresa, Benilde ; Jongmans, Marjolijn ; Lalani, Seema ; Maiburg, Merel ; Prescott, Katrina ; Robinson, Rachel ; Rajagopalan, Sulekha ; Blok, Lot Snijders ; Temple, Suzanna E.L. ; Tucker, Kathy ; Auerbach, Arleen D. ; Cancio, Maria I. ; Kennedy, Jennifer A. ; MacMillan, Margaret L. ; Tryon, Rebecca ; Wagner, John E. ; Walsh, Michael ; Boddicker, Nicholas J. ; Hu, Chunling ; Weitzel, Jeffrey N. ; Dingemans, Alexander J.M. ; Hadler, Johanna ; Rotenberg, Nitsan ; Ramadane-Morchadi, Lobna ; Hoya, Miguel de la ; James, Paul ; Van Overeem Hansen, Thomas ; Vreeswijk, Maaike P.G. ; Walker, Logan C. ; Sharan, Shyam K. ; Easton, Douglas F. ; Couch, Fergus ; Smogorzewska, Agata ; Nelson, Adam ; Ngeow, Joanne ; Tischkowitz, Marc ; Gomez-Garcia, Encarnacion ; Spurdle, Amanda B.
In The American Journal of Human Genetics 4 December 2025 112(12):2902-2921
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
Natasha Spottiswoode; Alexandra Tsitsiklis; Victoria T. Chu; Hoang Van Phan; Catherine DeVoe; Christina Love; Rajani Ghale; Joshua Bloomstein; Beth Shoshana Zha; Cole P. Maguire; Abigail Glascock; Aartik Sarma; Peter M. Mourani; Katrina L. Kalantar; Angela Detweiler; Norma Neff; Sidney C. Haller; COMET Consortium; Joseph L. DeRisi; David J. Erle; Carolyn M. Hendrickson; Kirsten N. Kangelaris; Matthew F. Krummel; Michael A. Matthay; Prescott G. Woodruff; Carolyn S. Calfee; Charles R. Langelier
Nature Communications, Vol 15, Iss 1, Pp 1-16 (2024)
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
Mary R. Sy; Jaynee Chauhan; Katrina Prescott; Aliza Imam; Alison Kraus; Ana Beleza; Lee Salkeld; Saraswati Hosdurga; Michael Parker; Pradeep Vasudevan; Lily Islam; Himanshu Goel; Nicole Bain; Soo‐Mi Park; Shehla Mohammed; Klaus Dieterich; Charles Coutton; Véronique Satre; Gaëlle Vieville; Alan Donaldson; Claire Beneteau; Jamal Ghoumid; Kris Van Den Bogaert; Anneleen Boogaerts; Elise Boudry; Clémence Vanlerberghe; Florence Petit; Laura Bernardini; Barbara Torres; Teresa Mattina; Diana Carli; Giorgia Mandrile; Michele Pinelli; Nicola Brunetti‐Pierri; Katherine Neas; Rachel Beddow; Pernille M. Tørring; Flavio Faletra; Beatrice Spedicati; Paolo Gasparini; Alessandro Mussa; Giovanni Battista Ferrero; Anne Lampe; Wayne Lam; Weimin Bi; Carlos A. Bacino; Akela Kuwahara; Jeffrey O. Bush; Xiaonan Zhao; Pamela N. Luna; Chad A. Shaw; Jill A. Rosenfeld; Daryl A. Scott
American Journal of Medical Genetics Part A, vol 188, iss 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
Academic Journal
Rema Ramakrishnan; Corinne Mallinson; Steven Hardy; Jennifer Broughan; Maisie Blyth; Gabriella Melis; Catherine Franklin; Melissa Hill; Rhiannon Mellis; Wing Han Wu; Stephanie Allen; Lyn S. Chitty; Marian Knight; EXPRESS Clinical Outcomes Group; Ruth Armstrong; Tazeen Ashraf; Ana Beleza-Meireles; Marta Bertoli; Lucy Bownass; Jennifer Campbell; Natalie Canham; Ruth Cleaver; Jan Cobben; Jacqueline Eason; Nour Elkhateeb; Alice Gardham; Alice Garrett; Sara Hillman; Emma Hobson; Simon Holden; Muriel Holder-Espinasse; Tessa Homfray; Monika Kosicka-Slawinska; Alison Male; Sahar Mansour; Sarju G. Mehta; Cathryn Moss; Jessica Myring; Pranav Pandya; Katrina Prescott; Lorna Randall; Sarah Richardson; Alexander Ross; Alison Stewart; Dagmar Tapon; Hannah Titheradge; Pradeep Vasudevan; Astrid Weber; Louise Wilson
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha ; D’Agostino, Maria D. ; Dupuis, Lucie ; Gangaram, Balram ; Gray, Christopher ; Jobling, Rebekah ; Pannia, Emanuela ; Platzer, Konrad ; Prescott, Katrina ; Redman, Melody ; Rippert, Alyssa L. ; Rosenfeld, Jill A. ; Scott, Daryl A. ; Wang, Yi W. ; Schmederer, Zelia ; Dalal, Ashwin ; Sarma, Asodu S. ; Skraban, Cara ; Dowling, James J. ; Mendoza-Londono, Roberto ; Slavotinek, Anne ; Bhoj, Elizabeth J.
In Genetics in Medicine August 2023 25(8)
Academic Journal
Katrina E. Hauschildt; Rachel K. Hechtman; Hallie C. Prescott; Leigh M. Cagino; Theodore J. Iwashyna
Critical Care, Vol 26, Iss 1, Pp 1-4 (2022)
Academic Journal
Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frédérique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju; Chung, Wendy; Devriendt, Koenraad; Holder, Susan; Jewett, Tamison; Baldwin, Lauren; Wilson, William; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sébastien; Sullivan, Jennifer; Shashi, Vandana; Koudijs, Suzanne; Heijligers, Malou; Kivuva, Emma; Mctague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie; Houge, Gunnar; Janssens, Veerle
Genet Med
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Genetics in medicine
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Genetics in medicine
Academic Journal
Schirwani, Schaida ; Hauser, Natalie ; Platt, Anna ; Punj, Sumit ; Prescott, Katrina ; Canham, Natalie ; study, D.D.D. ; Mansour, Sahar ; Balasubramanian, Meena
In European Journal of Medical Genetics June 2020 63(6)
Academic Journal
Murch, Oliver; Jain, Vani; Benneche, Andreas; Metcalfe, Kay; Hobson, Emma; Prescott, Katrina; Chandler, Kate; Ghali, Neeti; Carmichael, Jenny; Foulds, Nicola C.; Paulsen, Julie; Smeland, Marie F.; Berland, Siren; Fry, Andrew E.
European Journal of Human Genetics. 30(1):95-100
Academic Journal
Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Björn; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Diéz, Neus Baena; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muiño-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Sehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom R.; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert
Genetics in Medicine
Academic Journal
Konrad, Enrico D.H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C.J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane
Genet Med
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Academic Journal
Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison
Academic Journal
Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle
Human Mutation. 40:765-787
Academic Journal
Katrina E. Hauschildt, PhD; Rachel K. Hechtman, MD; Hallie C. Prescott, MD, MSc; Theodore J. Iwashyna, MD, PhD
Critical Care Explorations, Vol 4, Iss 6, p e0715 (2022)
Academic Journal
Zhang, Wei; Sun, Huiying; Gelfand, Aaron; Sawatzky, Richard; Pearce, Alison; Anis, Aslam H.; Prescott, Katrina; Lee, Christine
Journal of Occupational and Environmental Medicine. Nov 01, 2022 64(11):e677-e684
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