학술논문
'학술논문'
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1~10
Academic Journal
Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H.; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan
In The American Journal of Human Genetics 7 March 2024 111(3):487-508
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
de Masfrand, Servane; Cogné, Benjamin; Nizon, Mathilde; Deb, Wallid; Goldenberg, Alice; Lecoquierre, François; Nicolas, Gaël; Bournez, Marie; Vitobello, Antonio; Mau-Them, Frédéric Tran; le Guyader, Gwenaël; Bilan, Frédéric; Bauer, Peter; Zweier, Christiane; Piard, Juliette; Pasquier, Laurent; Bézieau, Stéphane; Gerard, Bénédicte; Faivre, Laurence; Saugier-Veber, Pascale; Piton, Amélie; Isidor, Bertrand
In European Journal of Medical Genetics June 2024 69
Academic Journal
Lecoquierre, François; Punt, A. Mattijs; Ebstein, Frédéric; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Sébastien; Tran Mau-Them, Frédédic; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Martinez Ojeda, Mayra; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krüger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; 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.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; 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 Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard 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.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley 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; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips III, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Guillen Sacoto, Maria J.; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S.A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.
In The American Journal of Human Genetics 4 January 2024 111(1):96-118
Academic Journal
Lavillaureix, Alinoë; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carré, Wilfrid; Guyodo, Hélène; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott; Kayserili, Hülya; Altunoglu, Umut; En Qi Chong, Angie; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Mittendorf, Luisa; Abou Jamra, Rami; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christèle; Odent, Sylvie; Dupé, Valérie
In Genetics in Medicine March 2024
Academic Journal
Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; El Khattabi, Laila; Prontera, Paolo; Caberg, Jean-Hubert; Van Dijck, Anke; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Luana Mandarà, Giuseppa Maria; Bruccheri, Maria Grazia; Pichon, Olivier; Le Caignec, Cedric; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Bénéteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
In The American Journal of Human Genetics 7 December 2023 110(12):2015-2028
Academic Journal
Lançon, Allan; Beaudouin, Amandine; Lambert, Laetitia; Baurand, Amandine; Petit, Estelle; Schaefer, Elise; Poirsier, Céline; Piard, Juliette; Patay, Léa; Garde, Aurore; Bournez, Marie; Bertolone, Geoffrey; Kastner, Claire; Tempé, Laurine; El Chehadeh, Salima; Spodenkiewick, Marta; Lissy, Lola; Doco-Fenzy, Martine; Cabrol, Christelle; Trouvé, Chloé; Brischoux, Elise Boucher; Cloteau, Mélanie; Burtin, Alexia; Renaud, Mathilde; Riviere, Axelle; Thomas, Quentin; De Souza, Clément Simao; Sawka, Caroline; Racine, Caroline; Robert, Marion; Gautier, Elodie; Delanne, Julian; Bertaut, Aurélie; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie
In European Journal of Medical Genetics October 2023 66(10)
Academic Journal
Montillot, Charlotte; Skutunova, Emilia; Ayushma; Dubied, Morgane; Lahmar, Adam; Nguyen, Sylvie; Peerally, Benazir; Prin, Fabrice; Duffourd, Yannis; Thauvin-Robinet, Christel; Duplomb, Laurence; Wang, Heng; Ansar, Muhammad; Faivre, Laurence; Navarro, Nicolas; Minocha, Shilpi; Collins, Stephan C.; Yalcin, Binnaz
In Neurobiology of Disease September 2023 185
Academic Journal
Denommé-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, María; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenaël; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozières, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz
In Genetics in Medicine July 2023 25(7)
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