학술논문
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'학술논문'
에서 검색결과 379건 | 목록
1~20
Academic Journal
Broeren, Eleanor C. ; Gitau, Vanessa N. ; Byrne, Alicia B. ; Ajuyah, Pamela ; Balzotti, Marie B. ; Berg, Jonathan S. ; Bluske, Krista ; Bowen, B. Monica ; Brown, Matthew P. ; Buchanan, Amanda ; Burns, Brendan T. ; Burns, Nicole J. ; Chandrasekhar, Anjana ; Chawla, Aditi ; Chong, Jessica X. ; Chopra, Maya ; Clause, Amanda R. ; DiStefano, Marina T. ; DiTroia, Stephanie ; Elnagheeb, Marwa A. ; Girod, Amanda N. ; Goel, Himanshu ; Golden-Grant, Katie L. ; Ha, Thuong ; Hamosh, Ada ; Huang, Jennifer M. ; Hughes, Madeline Y. ; Jamuar, Saumya S. ; Kam, Sylvia ; Kesari, Akanchha ; Koh, Ai Ling ; Lassiter, Rhonda N.T. ; Leigh, Sarah E. ; Lemire, Gabrielle ; Lim, Jiin Ying ; Malhotra, Alka ; McCurry, Hannah R. ; Milewski, Becky ; Moosa, Shahida ; Murray, Stephen A. ; Owens, Emma H. ; Palmer, Elizabeth E. ; Palus, Brooke C. ; Patel, Mayher J. ; Rajkumar, Revathi ; Ratliff, Julie C. ; Raymond, F. Lucy ; Della Ripa Rodrigues Assis, Bruno ; Sajan, Samin A. ; Schlachetzki, Zinayida ; Schmidt, Sarah A. ; Stark, Zornitza ; Strom, Samuel P. ; Taylor, Julie P. ; Thaxton, Courtney ; Thrush, Devon L. ; Toro, Sabrina ; Tshering, Kezang C. ; Vasilevsky, Nicole A. ; Wayburn, Bess ; Webb, Ryan F. ; O’Donnell-Luria, Anne ; Coffey, Alison J.
In Genetics in Medicine Open 2025 3
Academic Journal
Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.
In The American Journal of Human Genetics 3 August 2023 110(8):1343-1355
Academic Journal
Hasenahuer, Marcia A. ; Sanchis-Juan, Alba ; Laskowski, Roman A. ; Baker, James A. ; Stephenson, James D. ; Orengo, Christine A. ; Raymond, F. Lucy ; Thornton, Janet M.
In Journal of Molecular Biology 30 January 2023 435(2)
Academic Journal
Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand
In Genetics in Medicine September 2022 24(9):1941-1951
Academic Journal
French, Courtney E. ; Dolling, Helen ; Mégy, Karyn ; Sanchis-Juan, Alba ; Kumar, Ajay ; Delon, Isabelle ; Wakeling, Matthew ; Mallin, Lucy ; Agrawal, Shruti ; Austin, Topun ; Walston, Florence ; Park, Soo-Mi ; Parker, Alasdair ; Piyasena, Chinthika ; Bradbury, Kimberley ; Ellard, Sian ; Rowitch, David H. ; Raymond, F. Lucy
In Human Genetics and Genomics Advances 14 July 2022 3(3)
Academic Journal
Klöckner, Chiara ; Sticht, Heinrich ; Zacher, Pia ; Popp, Bernt ; Babcock, Holly E. ; Bakker, Dewi P. ; Barwick, Katy ; Bonfert, Michaela V. ; Bönnemann, Carsten G. ; Brilstra, Eva H. ; Chung, Wendy K. ; Clarke, Angus J. ; Devine, Patrick ; Donkervoort, Sandra ; Fraser, Jamie L. ; Friedman, Jennifer ; Gates, Alyssa ; Ghoumid, Jamal ; Hobson, Emma ; Horvath, Gabriella ; Keller-Ramey, Jennifer ; Keren, Boris ; Kurian, Manju A. ; Lee, Virgina ; Leppig, Kathleen A. ; Lundgren, Johan ; McDonald, Marie T. ; McLaughlin, Heather M. ; McTague, Amy ; Mefford, Heather C. ; Mignot, Cyril ; Mikati, Mohamad A. ; Nava, Caroline ; Raymond, F. Lucy ; Sampson, Julian R. ; Sanchis-Juan, Alba ; Shashi, Vandana ; Shieh, Joseph T.C. ; Shinawi, Marwan ; Slavotinek, Anne ; Stödberg, Tommy ; Stong, Nicholas ; Sullivan, Jennifer A. ; Taylor, Ashley C. ; Toler, Tomi L. ; van den Boogaard, Marie-José ; van der Crabben, Saskia N. ; van Gassen, Koen L.I. ; van Jaarsveld, Richard H. ; Van Ziffle, Jessica ; Wadley, Alexandrea F. ; Wagner, Matias ; Wigby, Kristen ; Wortmann, Saskia B. ; Zarate, Yuri A. ; Møller, Rikke S. ; Lemke, Johannes R. ; Platzer, Konrad
In Genetics in Medicine April 2021 23(4):653-660
Academic Journal
Rodger, Catherine ; Flex, Elisabetta ; Allison, Rachel J. ; Sanchis-Juan, Alba ; Hasenahuer, Marcia A. ; Cecchetti, Serena ; French, Courtney E. ; Edgar, James R. ; Carpentieri, Giovanna ; Ciolfi, Andrea ; Pantaleoni, Francesca ; Bruselles, Alessandro ; Onesimo, Roberta ; Zampino, Giuseppe ; Marcon, Francesca ; Siniscalchi, Ester ; Lees, Melissa ; Krishnakumar, Deepa ; McCann, Emma ; Yosifova, Dragana ; Jarvis, Joanna ; Kruer, Michael C. ; Marks, Warren ; Campbell, Jonathan ; Allen, Louise E. ; Gustincich, Stefano ; Raymond, F. Lucy ; Tartaglia, Marco ; Reid, Evan
In The American Journal of Human Genetics 3 December 2020 107(6):1129-1148
Academic Journal
de Bruijn, Suzanne E. ; Fiorentino, Alessia ; Ottaviani, Daniele ; Fanucchi, Stephanie ; Melo, Uirá S. ; Corral-Serrano, Julio C. ; Mulders, Timo ; Georgiou, Michalis ; Rivolta, Carlo ; Pontikos, Nikolas ; Arno, Gavin ; Roberts, Lisa ; Greenberg, Jacquie ; Albert, Silvia ; Gilissen, Christian ; Aben, Marco ; Rebello, George ; Mead, Simon ; Raymond, F. Lucy ; Corominas, Jordi ; Smith, Claire E.L. ; Kremer, Hannie ; Downes, Susan ; Black, Graeme C. ; Webster, Andrew R. ; Inglehearn, Chris F. ; van den Born, L. Ingeborgh ; Koenekoop, Robert K. ; Michaelides, Michel ; Ramesar, Raj S. ; Hoyng, Carel B. ; Mundlos, Stefan ; Mhlanga, Musa M. ; Cremers, Frans P.M. ; Cheetham, Michael E. ; Roosing, Susanne ; Hardcastle, Alison J.
In The American Journal of Human Genetics 5 November 2020 107(5):802-814
Academic Journal
Adhya, Zoe; Alachkar, Hana; Anantharachagan, Ariharan; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William J.; Attwood, Anthony; Bacchelli, Chiara; Batista, Joana; Baxendale, Helen E.; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boardman, Barbara; Booth, Claire; Bradley, John R.; Breen, Gerome; Brown, Matthew; Browning, Michael J.; Brownlie, Mary; Buckland, Matthew S.; Burns, Siobhan O.; Burren, Oliver S.; Carss, Keren; Chambers, John; Chandra, Anita; Brod, Naomi Clements; Clifford, Hayley; Cooper, Nichola; Daugherty, Louise C.; Davies, E.G.; Davies, Sophie; Davis, John; Deacock, Sarah; Deevi, Sri V.V.; Dempster, John; Devlin, Lisa A.; Dewhurst, Eleanor F.; Downes, Kate; Drewe, Elizabeth; Duarte, Daniel; Edgar, J. David M.; Edwards, Karen; Egner, William; El-Shanawany, Tariq; Erwood, Marie; Fletcher, Debra; Fox, James; Frary, Amy J.; Frontini, Mattia; Furnell, Abigail; Gaspar, H. Bobby; Ghurye, Rohit; Gilmour, Kimberly C.; Gleadall, Nicholas S.; Goddard, Sarah; Gordins, Pavels; Gräf, Stefan; Grassi, Luigi; Greene, Daniel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Haimel, Matthias; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Hu, Fengyuan; Hughes, Stephen; Huissoon, Aarnoud P.; James, Roger; Jolles, Stephen; Jolley, Jennifer; Jones, Julie; Karim, Yousuf; Kasanicki, Mary A.; Kelleher, Peter; Kempster, Carly; Kiani, Sorena; Kingston, Nathalie; Klein, Nigel; Kostadima, Myrto; Kreuzhuber, Roman; Kuijpers, Taco W.; Kumararatne, Dinakantha; Laffan, James; Allen, Hana Lango; Lear, Sara E.; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena E.; Lyons, Paul A.; Maimaris, Jesmeen; Manson, Ania; Mapeta, Rutendo; Martin, Jennifer; McCarthy, Mark I.; McDermott, Elizabeth M.; McKinney, Harriet; Meacham, Stuart; Megy, Karyn; Millar, Hazel; Mistry, Anoop; Morrisson, Valerie; Murng, Sai H.K.; Nasir, Iman; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Penkett, Christopher J.; Petersen, Romina; Ponsford, Mark J.; Qasim, Waseem; Quinn, Ellen; Quinti, Isabella; Raymond, F. Lucy; Rayner-Matthews, Paula J.; Richter, Alex; Samani, Nilesh; Samarghitean, Crina; Sanchis-Juan, Alba; Sargur, Ravishankar B.; Savic, Sinisa; Seneviratne, Suranjith L.; Sewell, W.A. Carrock; Seyres, Denis; Shackley, Fiona; Shamardina, Olga; Simeoni, Ilenia; Simpson, Michael A.; Smith, Kenneth G.C.; Staines, Simon; Staples, Emily; Stark, Hannah; Stauss, Hans; Steele, Cathal L.; Stephens, Jonathan; Stirrups, Kathleen E.; Thaventhiran, James E.; Thomas, David; Thomas, Moira J.; Thomas, Patrick; Thrasher, Adrian J.; Tilly, Tobias; Titterton, Catherine; Treadaway, Paul; Tuna, Salih; Turro, Ernest; Urniaz, Rafal; von Ziegenweidt, Julie; Walker, Neil; Watt, Christopher; Welch, Steven B.; Whitehorn, Deborah; Willcocks, Lisa; Wood, Nicholas; Wood, Yvette; Workman, Sarita; Worth, Austen; Yates, Katherine; Yeatman, Nigel; Yong, Patrick F.K.; Young, Timothy; Yu, Ping; Zlamalova, Eliska; Lorenzini, Tiziana ; Fliegauf, Manfred ; Klammer, Nils ; Frede, Natalie ; Proietti, Michele ; Bulashevska, Alla ; Camacho-Ordonez, Nadezhda ; Varjosalo, Markku ; Kinnunen, Matias ; de Vries, Esther ; van der Meer, Jos W.M. ; Ameratunga, Rohan ; Roifman, Chaim M. ; Schejter, Yael D. ; Kobbe, Robin ; Hautala, Timo ; Atschekzei, Faranaz ; Schmidt, Reinhold E. ; Schröder, Claudia ; Stepensky, Polina ; Shadur, Bella ; Pedroza, Luis A. ; van der Flier, Michiel ; Martínez-Gallo, Mónica ; Gonzalez-Granado, Luis Ignacio ; Allende, Luis M. ; Shcherbina, Anna ; Kuzmenko, Natalia ; Zakharova, Victoria ; Neves, João Farela ; Svec, Peter ; Fischer, Ute ; Ip, Winnie ; Bartsch, Oliver ; Barış, Safa ; Klein, Christoph ; Geha, Raif ; Chou, Janet ; Alosaimi, Mohammed ; Weintraub, Lauren ; Boztug, Kaan ; Hirschmugl, Tatjana ; Dos Santos Vilela, Maria Marluce ; Holzinger, Dirk ; Seidl, Maximilian ; Lougaris, Vassilios ; Plebani, Alessandro ; Alsina, Laia ; Piquer-Gibert, Monica ; Deyà-Martínez, Angela ; Slade, Charlotte A. ; Aghamohammadi, Asghar ; Abolhassani, Hassan ; Hammarström, Lennart ; Kuismin, Outi ; Helminen, Merja ; Freeman, Alexandra F. ; Cook, Matthew ; Bakhtiar, Shahrzad ; Christiansen, Mette ; Cunningham-Rundles, Charlotte ; Patel, Niraj C. ; Rae, William ; Niehues, Tim ; Brauer, Nina ; Syrjänen, Jaana ; Seppänen, Mikko R.J. ; Tuijnenburg, Paul ; Warnatz, Klaus ; Grimbacher, Bodo
In The Journal of Allergy and Clinical Immunology October 2020 146(4):901-911
Academic Journal
Chen, Xiao ; Sanchis-Juan, Alba ; French, Courtney E. ; Connell, Andrew J. ; Delon, Isabelle ; Kingsbury, Zoya ; Chawla, Aditi ; Halpern, Aaron L. ; Taft, Ryan J. ; Bentley, David R. ; Butchbach, Matthew E.R. ; Raymond, F. Lucy ; Eberle, Michael A.
In Genetics in Medicine May 2020 22(5):945-953
Academic Journal
Sangermano, Riccardo ; Garanto, Alejandro ; Khan, Mubeen ; Runhart, Esmee H. ; Bauwens, Miriam ; Bax, Nathalie M. ; van den Born, L. Ingeborgh ; Khan, Muhammad Imran ; Cornelis, Stéphanie S. ; Verheij, Joke B.G.M. ; Pott, Jan-Willem R. ; Thiadens, Alberta A.H.J. ; Klaver, Caroline C.W. ; Puech, Bernard ; Meunier, Isabelle ; Naessens, Sarah ; Arno, Gavin ; Fakin, Ana ; Carss, Keren J. ; Raymond, F. Lucy ; Webster, Andrew R. ; Dhaenens, Claire-Marie ; Stöhr, Heidi ; Grassmann, Felix ; Weber, Bernhard H.F. ; Hoyng, Carel B. ; De Baere, Elfride ; Albert, Silvia ; Collin, Rob W.J. ; Cremers, Frans P.M.
In Genetics in Medicine August 2019 21(8):1751-1760
Academic Journal
Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Davis, Erica E.; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Nicholas; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Sadeghpour, Azita; Smith, Edward; Wiener, John; Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Myers, Candace T. ; Uysal, Betül ; Schwarz, Niklas ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Héron, Delphine ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kibaek, Maria ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Kruer, Michael C. ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Padilla-Lopez, Sergio ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Lanpher, Brendan C. ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Haan, Eric ; Smith, Nicholas ; Corbett, Mark A. ; MacLennan, Alastair H. ; Gecz, Jozef ; Biskup, Saskia ; Goldmann, Eva ; Rodan, Lance H. ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; Dimmock, David ; McCarrier, Julie ; Botto, Lorenzo D. ; Filloux, Francis ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Wang, Raymond ; Jacobsen, Jessie C. ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Anderlid, Britt-Marie ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; Casas, Kari ; El Achkar, Christelle M. ; Smith, Lacey A. ; Rotenberg, Alexander ; Poduri, Annapurna ; Sanchis-Juan, Alba ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Raymond, F. Lucy ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Hughes, Imelda ; Banka, Siddharth ; Hedrich, Ulrike B.S. ; Scheffer, Ingrid E. ; Helbig, Ingo ; Zamponi, Gerald W. ; Lerche, Holger ; Mefford, Heather C.
In The American Journal of Human Genetics 1 November 2018 103(5):666-678
Academic Journal
Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cookson, Victoria; Cooper, Nichola; Corris, Paul; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Dixon, Peter; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Graf, Stefan; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huis in’t Veld, Anna; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kuijpers, Taco; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lango-Allen, Hana; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Louka, Eleni; Machado, Rajiv; Ross, Rob Mackenzie; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Othman, Shokri; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rayner-Matthews, Paula; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Roy, Noémi; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schotte, Gwen; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth G.C.; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stark, Hannah; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Watt, Christopher; Webster, ndrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Woods, Geoff; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Whitworth, James ; Smith, Philip S. ; Martin, Jose-Ezequiel ; West, Hannah ; Luchetti, Andrea ; Rodger, Faye ; Clark, Graeme ; Penkett, Chris ; Shakeel, Hassan ; Ahmed, Munaza ; Adlard, Julian ; Barwell, Julian ; Brewer, Carole ; Casey, Ruth T. ; Cole, Trevor ; Evans, Dafydd Gareth ; Fostira, Florentia ; Greenhalgh, Lynn ; Hanson, Helen ; Henderson, Alex ; Hoffman, Jonathan ; Izatt, Louise ; Kumar, Ajith ; Kwong, Ava ; Lalloo, Fiona ; Ong, Kai Ren ; Chen-Shtoyerman, Rakefet ; Searle, Claire ; Side, Lucy ; Skytte, Anne-Bine ; Snape, Katie ; Woodward, Emma R. ; Tischkowitz, Marc D. ; Maher, Eamonn R.
In The American Journal of Human Genetics 5 July 2018 103(1):3-18
Academic Journal
Bengani, Hemant ; Handley, Mark ; Alvi, Mohsan ; Ibitoye, Rita ; Lees, Melissa ; Lynch, Sally Ann ; Lam, Wayne ; Fannemel, Madeleine ; Nordgren, Ann ; Malmgren, H. ; Kvarnung, M. ; Mehta, Sarju ; McKee, Shane ; Whiteford, Margo ; Stewart, Fiona ; Connell, Fiona ; Clayton-Smith, Jill ; Mansour, Sahar ; Mohammed, Shehla ; Fryer, Alan ; Morton, Jenny ; Grozeva, Detelina ; Asam, Tara ; Moore, David ; Sifrim, Alejandro ; McRae, Jeremy ; Hurles, Matthew E. ; Firth, Helen V. ; Raymond, F. Lucy ; Kini, Usha ; Nellåker, Christoffer ; FitzPatrick, David R.
In Genetics in Medicine August 2017 19(8):900-908
Academic Journal
Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K.; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R.; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri V.V.; Deshpande, Charu; Devlin, Lisa; Dewhurst, Eleanor; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David; Egner, William; Erber, Wendy N.; Erwood, Marie; Everington, Tamara; Favier, Remi; Firth, Helen; Fletcher, Debra; Flinter, Frances; Fox, James C.; Frary, Amy; Freson, Kathleen; Furie, Bruce; Furnell, Abigail; Gale, Daniel; Gardham, Alice; Gattens, Michael; Ghali, Neeti; Ghataorhe, Pavandeep K.; Ghurye, Rohit; Gibbs, Simon; Gilmour, Kimberley; Gissen, Paul; Goddard, Sarah; Gomez, Keith; Gordins, Pavel; Gräf, Stefan; Greene, Daniel; Greenhalgh, Alan; Greinacher, Andreas; Grigoriadou, Sofia; Grozeva, Detelina; Hackett, Scott; Hadinnapola, Charaka; Hague, Rosie; Haimel, Matthias; Halmagyi, Csaba; Hammerton, Tracey; Hart, Daniel; Hayman, Grant; Heemskerk, Johan W.M.; Henderson, Robert; Hensiek, Anke; Henskens, Yvonne; Herwadkar, Archana; Holden, Simon; Holder, Muriel; Holder, Susan; Hu, Fengyuan; Huissoon, Aarnoud; Humbert, Marc; Hurst, Jane; James, Roger; Jolles, Stephen; Josifova, Dragana; Kazmi, Rashid; Keeling, David; Kelleher, Peter; Kelly, Anne M.; Kennedy, Fiona; Kiely, David; Kingston, Nathalie; Koziell, Ania; Krishnakumar, Deepa; Kuijpers, Taco W.; Kumararatne, Dinakantha; Kurian, Manju; Laffan, Michael A.; Lambert, Michele P.; Allen, Hana Lango; Lawrie, Allan; Lear, Sara; Lees, Melissa; Lentaigne, Claire; Liesner, Ri; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Machado, Rajiv; Mackenzie, Rob; MacLaren, Robert; Maher, Eamonn; Maimaris, Jesmeen; Mangles, Sarah; Manson, Ania; Mapeta, Rutendo; Markus, Hugh S.; Martin, Jennifer; Masati, Larahmie; Mathias, Mary; Matser, Vera; Maw, Anna; McDermott, Elizabeth; McJannet, Coleen; Meacham, Stuart; Meehan, Sharon; Megy, Karyn; Mehta, Sarju; Michaelides, Michel; Millar, Carolyn M.; Moledina, Shahin; Moore, Anthony; Morrell, Nicholas; Mumford, Andrew; Murng, Sai; Murphy, Elaine; Nejentsev, Sergey; Noorani, Sadia; Nurden, Paquita; Oksenhendler, Eric; Ouwehand, Willem H.; Papadia, Sofia; Park, Soo-Mi; Parker, Alasdair; Pasi, John; Patch, Chris; Paterson, Joan; Payne, Jeanette; Peacock, Andrew; Peerlinck, Kathelijne; Penkett, Christopher J.; Pepke-Zaba, Joanna; Perry, David J.; Pollock, Val; Polwarth, Gary; Ponsford, Mark; Qasim, Waseem; Quinti, Isabella; Rankin, Stuart; Rankin, Julia; Raymond, F. Lucy; Rehnstrom, Karola; Reid, Evan; Rhodes, Christopher J.; Richards, Michael; Richardson, Sylvia; Richter, Alex; Roberts, Irene; Rondina, Matthew; Rosser, Elisabeth; Roughley, Catherine; Rue-Albrecht, Kevin; Samarghitean, Crina; Sanchis-Juan, Alba; Sandford, Richard; Santra, Saikat; Sargur, Ravishankar; Savic, Sinisa; Schulman, Sol; Schulze, Harald; Scott, Richard; Scully, Marie; Seneviratne, Suranjith; Sewell, Carrock; Shamardina, Olga; Shipley, Debbie; Simeoni, Ilenia; Sivapalaratnam, Suthesh; Smith, Kenneth; Sohal, Aman; Southgate, Laura; Staines, Simon; Staples, Emily; Stauss, Hans; Stein, Penelope; Stephens, Jonathan; Stirrups, Kathleen; Stock, Sophie; Suntharalingam, Jay; Tait, R. Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Tischkowitz, Marc; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; Vogt, Julie; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wakeling, Emma; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Carss, Keren J. ; Hull, Sarah ; Malka, Samantha ; Plagnol, Vincent ; Penkett, Christopher ; Rizzo, Roberta ; Wright, Genevieve ; Scott, Richard H. ; Brady, Angela F. ; Henderson, Robert H.H. ; MacLaren, Robert E. ; Thompson, Dorothy A. ; Moore, Anthony T. ; Webster, Andrew R. ; Raymond, F. Lucy
In The American Journal of Human Genetics 5 January 2017 100(1):75-90
Academic Journal
Dolling, Helen; Rowitch, Sophie; Bromham, Malachy; Archer, Stephanie; O’Curry, Sara; Rowitch, David H.; Raymond, F. Lucy; Hughes, Claire; Baker, Kate
European Journal of Human Genetics. 34(2):260-269
Academic Journal
Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Yu, Jing; Lise, Stefano; Arno, Gavin; Fiorentino, Alessia; Ponitkos, Nikos; Plagnol, Vincent; Michaelides, Michel; Hardcastle, Alison J.; Cheetham, Michael E.; Webster, Andrew R.; van Heyningen, Veronica; Agrawal, Smriti A. ; Eblimit, Aiden ; Bellingham, James ; Xu, Mingchu ; Wang, Feng ; Chakarova, Christina ; Parfitt, David A. ; Lane, Amelia ; Burgoyne, Thomas ; Hull, Sarah ; Carss, Keren J. ; Hayes, Matthew J. ; Munro, Peter M. ; Nicols, Ralph ; Pontikos, Nikolas ; Holder, Graham E. ; Asomugha, Chinwe ; Raymond, F. Lucy ; Moore, Anthony T. ; Hardcastle, Alison J. ; Li, Yumei ; Cukras, Catherine ; Webster, Andrew R. ; Cheetham, Michael E. ; Chen, Rui
In The American Journal of Human Genetics 1 December 2016 99(6):1305-1315
Academic Journal
In NeuroImage: Clinical February 2016 12:655-665
Academic Journal
Donnelly, Nicholas; Cunningham, Adam; Salas, Sergio Marco; Bracher-Smith, Matthew; Chawner, Samuel; Stochl, Jan; Ford, Tamsin; Raymond, F. Lucy; Escott-Price, Valentina; van den Bree, Marianne B. M.
Academic Journal
Froyen, Guy ; Belet, Stefanie ; Martinez, Francisco ; Santos-Rebouças, Cíntia Barros ; Declercq, Matthias ; Verbeeck, Jelle ; Donckers, Lene ; Berland, Siren ; Mayo, Sonia ; Rosello, Monica ; Pimentel, Márcia Mattos Gonçalves ; Fintelman-Rodrigues, Natalia ; Hovland, Randi ; Rodrigues dos Santos, Suely ; Raymond, F. Lucy ; Bose, Tulika ; Corbett, Mark A. ; Sheffield, Leslie ; van Ravenswaaij-Arts, Conny M.A. ; Dijkhuizen, Trijnie ; Coutton, Charles ; Satre, Veronique ; Siu, Victoria ; Marynen, Peter
In The American Journal of Human Genetics 10 August 2012 91(2):252-264
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