학술논문
'학술논문'
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1~10
Academic Journal
Jil D. Stegmann; Jeshurun C. Kalanithy; Gabriel C. Dworschak; Nina Ishorst; Enrico Mingardo; Filipa M. Lopes; Yee Mang Ho; Phillip Grote; Tobias T. Lindenberg; Öznur Yilmaz; Khadija Channab; Steve Seltzsam; Shirlee Shril; Friedhelm Hildebrandt; Felix Boschann; André Heinen; Angad Jolly; Katherine Myers; Kim McBride; Mir Reza Bekheirnia; Nasim Bekheirnia; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Annalaura Torella; TUDP consortium; Michele Pinelli; Valeria Capra; Andrea Accogli; Silvia Maitz; Alice Spano; Rory J. Olson; Eric W. Klee; Brendan C. Lanpher; Se Song Jang; Jong-Hee Chae; Philipp Steinbauer; Dietmar Rieder; Andreas R. Janecke; Julia Vodopiutz; Ida Vogel; Jenny Blechingberg; Jennifer L. Cohen; Kacie Riley; Victoria Klee; Laurence E. Walsh; Matthias Begemann; Miriam Elbracht; Thomas Eggermann; Arzu Stoppe; Kyra Stuurman; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Maureen S. Mulhern; Tristan T. Sands; Cheryl Cytrynbaum; Rosanna Weksberg; Federica Isidori; Tommaso Pippucci; Giulia Severi; Francesca Montanari; Michael C. Kruer; Somayeh Bakhtiari; Hossein Darvish; Heiko Reutter; Gregor Hagelueken; Matthias Geyer; Adrian S. Woolf; Jennifer E. Posey; James R. Lupski; Benjamin Odermatt; Alina C. Hilger
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Academic Journal
Awamleh, Zain; Chater-Diehl, Eric; Choufani, Sanaa; Wei, Elizabeth; Kianmahd, Rebecca R; Yu, Anna; Chad, Lauren; Costain, Gregory; Tan, Wen-Hann; Scherer, Stephen W; Arboleda, Valerie A; Russell, Bianca E; Weksberg, Rosanna
European Journal of Human Genetics. 30(6)
Academic Journal
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander JM; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert BA; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance TRM; Stevens, Servi JC; Vermeulen, Jeroen R; van Harssel, Jeske VT; Bosch, Danielle GM; van Gassen, Koen LI; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata JM; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka ELM; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna
American Journal of Human Genetics. 108(6)
Academic Journal
Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez‐Lara, Pedro A; Del Campo, Miguel; Jones, Marilyn C; Abdul‐Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben‐Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary‐Alice; Allain, Dawn C; Amlie‐Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon‐Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores‐Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin‐To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui‐Yan; Jobling, Rebekah K; Johnson, Amy E Knight; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell‐Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J
American Journal of Medical Genetics Part A. 185(6)
Academic Journal
Yuen, RKC; Merico, D; Cao, HZ; Pellecchia, G; Alipanahi, B; Thiruvahindrapuram, B; Tong, X; Sun, YH; Cao, DD; Zhang, T; Wu, XL; Jin, X; Zhou, Z; Liu, XM; Nalpathamkalam, T; Walker, S; Howe, JL; Wang, ZZ; MacDonald, JR; Chan, AJS; D'Abate, L; Deneault, E; Siu, MT; Tammimies, K; Uddin, M; Zarrei, M; Wang, MB; Li, YR; Wang, J; Yang, HM; Bookman, M; Bingham, J; Gross, SS; Loy, D; Pletcher, M; Marshall, CR; Anagnostou, E; Zwaigenbaum, L; Weksberg, R; Fernandez, BA; Roberts, W; Szatmari, P; Glazer, D; Frey, BJ; Ring, RH; Xu, X; Scherer, SW
NPJ genomic medicine. 1:160271-1602710
Academic Journal
Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane
American Journal of Human Genetics. 107(2)
Academic Journal
Scherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; Parker-Katiraee, L; Skaug, J; Khaja, R; Zhang, JJ; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XQH; Lai, ZW; Nusskern, D; Zhang, Q; Gu, ZP; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HHQ; Pelicci, PG; Lo-Coco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GAP; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJT; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Dohner, H; Dohner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC
Science (New York, N.Y.). 300(5620):767-772
Academic Journal
Rots, D.; Dingemans, A.J.M.; Ockeloen, C.W.; Diets, I.J.; de Vries, B.B.A.; Adams, H.; Kennis, M.G.P.; Bouman, A.; Pfundt, R.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Choufani, S.; Weksberg, R.; Faundes, V.; Joss, S.; Foulds, N.; Jones, E.A.; Stewart, S.; Banka, S.; Vasudevan, P.; Dabir, T.; Park, S.-M.; Jewell, R.; Brown, N.; Pais, L.; O'Donnell-Luria, A.; Valivullah, Z.; O'Leary, M.; Kaziyev, J.; Zhu, J.; Breault, D.; Jacquemont, S.; Jizi, K.; Ravenswaaij-Arts, C.M.A.V.; Kroes, H.Y.; Giltay, J.C.; Stumpel, C.T.R.M.; Vernimmen, V.; Sinnema, M.; Nizon, M.; Vincent, M.; Cogné, B.; Besnard, T.; Kambouris, M.; Anderson, E.; Zackai, E.H.; McDougall, C.; Donoghue, S.; Srivastava, S.; Byers, H.; Leslie, N.; Mazzola, S.; Tiller, G.E.; Vera, M.; Shen, J.J.; Boles, R.; Jain, V.; Brischoux-Boucher, E.; Kinning, E.; Simpson, B.N.; Harris, J.; Keren, B.; Guimier, A.; Marijon, P.; Motter, C.S.; Mendelsohn, B.A.; Coffino, S.; Gerkes, E.H.; Zonneveld-Huijssoon, E.; Afenjar, A.; Visconti, P.; Posar, A.; Bacchelli, E.; Maestrini, E.; Ceroni, F.; Viggiano, M.; Delahaye-Duriez, A.; Gooch, C.; Hendriks, Y.; Rutten, J.W.; Thauvin-Robinet, C.; Josephi-Taylor, S.; Bertoli, M.; Parker, M.J.; Caluseriu, O.; Vernon, H.J.; Kremen, J.; Frazier, Z.; Osika, H.; Nair, S.; Lewis, S.M.E.; Brittain, H.; Giovanna, T.; Giulia, G.; Quteineh, L.; Ha-Vinh Leuchter, R.; Mellado, C.; Marey, I.; Coudert, A.; Aracena Alvarez, M.I.; Roifman, M.; Amorós Rodríguez, M.I.; Ortigoza-Escobar, J.D.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 8 August 2024, 111(8):1626-1642)
Academic Journal
Kamihara, J.; Diller, L.R.; Foulkes, W.D.; Michaeli, O.; Nakano, Y.; Pajtler, K.W.; Perrino, M.; Scollon, S.R.; Stewart, D.R.; Voss, S.; Weksberg, R.; Hansford, J.R.; Brodeur, G.M.
In: Clinical Cancer Research . (Clinical Cancer Research, 1 August 2024, 30(15):3137-3143)
Academic Journal
Stegmann, J.D.; Kalanithy, J.C.; Dworschak, G.C.; Ishorst, N.; Reutter, H.; Mingardo, E.; Channab, K.; Odermatt, B.; Lindenberg, T.T.; Yilmaz, Ö.; Lopes, F.M.; Ho, Y.M.; Woolf, A.S.; Grote, P.; Seltzsam, S.; Shril, S.; Hildebrandt, F.; Boschann, F.; Heinen, A.; Jolly, A.; Bekheirnia, M.R.; Posey, J.E.; Lupski, J.R.; Myers, K.; McBride, K.; Bekheirnia, N.; Scala, M.; Morleo, M.; Nigro, V.; Torella, A.; Pinelli, M.; Capra, V.; Accogli, A.; Maitz, S.; Spano, A.; Olson, R.J.; Klee, E.W.; Lanpher, B.C.; Jang, S.S.; Chae, J.-H.; Steinbauer, P.; Rieder, D.; Janecke, A.R.; Vodopiutz, J.; Vogel, I.; Blechingberg, J.; Cohen, J.L.; Riley, K.; Klee, V.; Walsh, L.E.; Begemann, M.; Elbracht, M.; Eggermann, T.; Stoppe, A.; Stuurman, K.; van Slegtenhorst, M.; Barakat, T.S.; Mulhern, M.S.; Sands, T.T.; Cytrynbaum, C.; Weksberg, R.; Isidori, F.; Pippucci, T.; Severi, G.; Montanari, F.; Kruer, M.C.; Bakhtiari, S.; Darvish, H.; Hagelueken, G.; Geyer, M.; Hilger, A.C.
In: npj Genomic Medicine . (npj Genomic Medicine, December 2024, 9(1))
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