학술논문
'학술논문'
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1~10
Academic Journal
Zhao, Yingjie; Wang, Yujue; Shi, Lijie; McDonald-McGinn, Donna M.; Crowley, T. Blaine; McGinn, Daniel E.; Tran, Oanh T.; Miller, Daniella; Lin, Jhih-Rong; Zackai, Elaine; Johnston, H. Richard; Chow, Eva W. C.; Vorstman, Jacob A. S.; Vingerhoets, Claudia; van Amelsvoort, Therese; Gothelf, Doron; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R.; Eliez, Stephan; Schneider, Maude; van den Bree, Marianne B. M.; Owen, Michael J.; Kates, Wendy R.; Repetto, Gabriela M.; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E.; Digilio, M. Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Angkustsiri, Kathleen; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; Murphy, Kieran C.; Murphy, Declan; García-Miñaúr, Sixto; Fernández, Luis; Zhang, Zhengdong D.; Goldmuntz, Elizabeth; Gur, Raquel E.; Emanuel, Beverly S.; Zheng, Deyou; Marshall, Christian R.; Bassett, Anne S.; Wang, Tao; Morrow, Bernice E.
npj Genomic Medicine. 8(1)
Academic Journal
Yingjie Zhao; Yujue Wang; Lijie Shi; Donna M. McDonald-McGinn; T. Blaine Crowley; Daniel E. McGinn; Oanh T. Tran; Daniella Miller; Jhih-Rong Lin; Elaine Zackai; H. Richard Johnston; Eva W. C. Chow; Jacob A. S. Vorstman; Claudia Vingerhoets; Therese van Amelsvoort; Doron Gothelf; Ann Swillen; Jeroen Breckpot; Joris R. Vermeesch; Stephan Eliez; Maude Schneider; Marianne B. M. van den Bree; Michael J. Owen; Wendy R. Kates; Gabriela M. Repetto; Vandana Shashi; Kelly Schoch; Carrie E. Bearden; M. Cristina Digilio; Marta Unolt; Carolina Putotto; Bruno Marino; Maria Pontillo; Marco Armando; Stefano Vicari; Kathleen Angkustsiri; Linda Campbell; Tiffany Busa; Damian Heine-Suñer; Kieran C. Murphy; Declan Murphy; Sixto García-Miñaúr; Luis Fernández; International 22q11.2 Brain and Behavior Consortium (IBBC); Zhengdong D. Zhang; Elizabeth Goldmuntz; Raquel E. Gur; Beverly S. Emanuel; Deyou Zheng; Christian R. Marshall; Anne S. Bassett; Tao Wang; Bernice E. Morrow
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Academic Journal
Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; McDonald-McGinn, Donna M; McGinn, Daniel; Crowley, T Blaine; Repetto, Gabriela M; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Kates, Wendy R; Digilio, M Cristina; Unolt, Marta; Marino, Bruno; Pontillo, Maria; Armando, Marco; Di Fabio, Fabio; Vicari, Stefano; van den Bree, Marianne; Moss, Hayley; Owen, Michael J; Murphy, Kieran C; Murphy, Clodagh M; Murphy, Declan; Schoch, Kelly; Shashi, Vandana; Tassone, Flora; Simon, Tony J; Shprintzen, Robert J; Campbell, Linda; Philip, Nicole; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Consortium, International 22q11 2 Brain and Behavior; Antonarakis, Stylianos E; Biondi, Massimo; Boot, Erik; Breetvelt, Elemi; Busa, Tiffany; Butcher, Nancy; Buzzanca, Antonino; Carmel, Miri; Cleynen, Isabelle; Cutler, David; Dallapiccola, Bruno; de la Fuente Sanches, María Angeles; Epstein, Michael P; Evers, Rens; Fernandez, Luis; Fritsch, Rosemarie; Algas, Fernando García; Guo, Tingwei; Gur, Raquel; Hestand, Matthew S; Heung, Tracy; Hooper, Stephen; Jin, Andrea; Kushan-Wells, Leila; Laorden-Nieto, Alejandra Teresa; Lattanzi, Guido; Marshall, Christian; McCabe, Kathryn; Michaelovsky, Elena; Ornstein, Claudia; Silversides, Candice; Tran, Oanh; van Duin, Esther DA; Vergaelen, Elfi; Warren, Steve T; Weinberger, Ronnie; Weizman, Abraham; Zhang, Zhengdong; Zwick, Michael; Bearden, Carrie E; Vingerhoets, Claudia; van Amelsvoort, Therese; Eliez, Stephan; Schneider, Maude; Vorstman, Jacob AS; Gothelf, Doron; Zackai, Elaine; Agopian, AJ; Gur, Raquel E; Bassett, Anne S; Emanuel, Beverly S; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Morrow, Bernice E
American Journal of Human Genetics. 106(1)
Academic Journal
Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T. Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araujo, Camila; Machado, Helio R.; George, Renee; Gerding, Bryn; James, Kiely N.; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S.; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H.; Kibar, Zoha; Marwan, Ahmed I.; Melikishvili, Gia; Meltzer, Hal S.; Mutchinick, Osvaldo M.; Stevenson, David A.; Mroczkowski, Henry J.; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H.; Emanuel, Beverly S.; Garcia-Minaur, Sixto; Nowakowska, Beata A.; Stevenson, Roger E.; Zaki, Maha S.; Northrup, Hope; McNamara, Hanna K.; Aldinger, Kimberly A.; Phelps, Ian G.; Deng, Mei; Glass, Ian A.; Koch, Allison Elizabeth Ashley; Le, Joan; Lupo, Philip J.; Magana, Tony; Marwan, Ahmed, I; Yurrita, Anna; Medina-Bereciartu, Jose Ramon; Kolvenbach, Caroline M.; Shril, Shirlee; Hildebrandt, Friedhelm; Noureldeen, Mahmoud M.; Salem, Aida MS.; Takahashi, Yukitoshi; Salimi-Dafsari, Hormos; Phillips, H. Westley; Hanak, Brian; Kara, Bulent; Gunes, Ayfer Sakarya; Gonda, David D.; Kirmani, Salman; Tkemaladze, Tinatin; Morrow, Bernice; McDonald-McGinn, Donna M.; Sanna-Cherchi, Simone; Lamb, Dolores J.; Gleeson, Joseph G.; Spina Bifida Sequencing Consortium
Academic Journal
Freud, Lindsay R.; Galloway, Stephanie; Crowley, T. Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl-Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; McGlynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, J. William; Goldmuntz, Elizabeth; McGinn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; McDonald-McGinn, Donna M.
In American Journal of Obstetrics and Gynecology March 2024 230(3):368-368
Electronic Resource
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G.M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O’Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C.E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Mau-Them, Frederic Tran; Garcia Moya, Luis Fernandez; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B.A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr , M H , Lemire , G , Boycott , K M , Towne , M , Li , M , Tarnopolsky , M , Brady , L , Parker , M J , Faghfoury , H , Parsley , L K , Agolini , E , Dentici , M L , Novelli , A , Wright , M , Palmquist , R , Lai , K , Scala , M , Striano , P , Iacomino , M , Zara , F , Cooper , A , Maarup , T J , Byler , M , Lebel , R R , Balci , T B , Louie , R , Lyons , M , Douglas , J , Nowak , C , Afenjar , A , Hoyer , J , Keren , B , Maas , S M , Motazacker , M M , Martinez-Agosto , J A , Rabani , A M , McCormick , E M , Falk , M J , Ruggiero , S M , Helbig , I , Møller , R S , Tessarollo , L , Ardori , F T , Palko , M E , Hsieh , T C , Krawitz , P M , Ganapathi , M , Gelb , B D , Jobanputra , V , Wilson , A , Greally , J , Jacquemont , S , Jizi , K , Bruel , A L , Quelin , C , Misra , V K , Chick , E , Romano , C , Greco , D , Arena , A , Morleo , M , Nigro , V , Seyama , R , Uchiyama , Y , Matsumoto , N , Taira , R , Tashiro , K , Sakai , Y , Yigit , G , Wollnik , B , Wagner , M , Kutsche , B , Hurst , A C E , Thompson , M L , Schmidt , R , Randolph , L , Spillmann , R C , Shashi , V , Higginbotham , E J , Cordeiro , D , Carnevale , A , Costain , G , Khan , T , Funalot , B , Mau-Them , F T , Garcia Moya , L F , García-Miñaúr , S , Osmond , M , Chad , L , Quercia , N , Carrasco , D , Li , C , Sanchez-Valle , A , Kelley , M , Nizon , M , Jensson , B O , Sulem , P , Stefansson , K , Gorokhova , S , Busa , T , Rio , M , Habdallah , H H , Lesieur-Sebellin , M , Amiel , J , Pingault , V , Mercier , S , Vincent , M , Philippe , C , Fatus-Fauconnier , C , Friend , K , Halligan , R K , Biswas , S , Rosser , J , Shoubridge , C , Corbett , M , Barnett , C , Gecz , J , Leppi
Academic Journal
Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; de Burca, Anna; Destrée, Anne; García-Miñaúr, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribaï, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniël; Symoens, Sofie; Callewaert, Bert
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(1):124-131
Academic Journal
Lacombe, D.; Van-Gils, J.; Fergelot, P.; Taupiac, E.; Bloch-Zupan, A.; Bredrup, C.; Cooper, E.B.; Houge, S.D.; García-Miñaúr, S.; Kayserili, H.; Larizza, L.; Lopez Gonzalez, V.; Menke, L.A.; Huisman, S.A.; Hennekam, R.C.; Milani, D.; Meossi, C.; Prada, E.; Saettini, F.; Stevens, C.A.; Tooke, L.; Van Der Zee, J.A.; Van Genderen, M.M.; Waite, J.; Adrien, J.-L.; Bartsch, O.; Bitoun, P.; Bouts, A.H.M.; Cueto-González, A.M.; Valenzuena Palafoll, I.; Dominguez-Garrido, E.; Duijkers, F.A.; Halstead, E.; Mullins, J.; Nikkel, S.M.; Oliver, C.; Rei, A.; Russell, J.; Totaro, N.; Riddle, I.; Wiley, S.; Rodriguez-Fonseca, C.; Rodríguez Pena, R.; Saba, A.; Santos-Simarro, F.; Simpson, B.N.; Smith, D.F.; Stevens, M.F.; Szakszon, K.; Van Der Kaay, D.C.M.; Van Wijk, M.P.; Vyshka, K.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 June 2024, 61(6):503-519)
Academic Journal
Blagowidow, Natalie; Nowakowska, Beata; Schindewolf, Erica; Grati, Francesca Romana; Putotto, Carolina; Breckpot, Jeroen; Swillen, Ann; Crowley, Terrence Blaine; Loo, Joanne C. Y.; Lairson, Lauren A.; Oskarsdottir, Solveig; Boot, Erik; Garcia-Minaur, Sixto; Cristina Digilio, Maria; Marino, Bruno; Coleman, Beverly; Moldenhauer, Julie S.; Bassett, Anne S.; McDonald-McGinn, Donna M.
Academic Journal
White, Lauren K.; Crowley, T. Blaine; Finucane, Brenda; McClellan, Emily J.; Donoghue, Sarah; Garcia-Minaur, Sixto; Repetto, Gabriela M.; Fischer, Matthias; Jacquemont, Sebastien; Gur, Raquel E.; Maillard, Anne M.; Donald, Kirsten A.; Bassett, Anne S.; Swillen, Ann; McDonald-McGinn, Donna M.
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