학술논문
'학술논문'
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1~10
Academic Journal
Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina GS; Signer, Rebecca H; Undiagnosed Diseases Network; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Academic Journal
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Le Quesne Stabej, Polona; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vøllo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
In The American Journal of Human Genetics 2 November 2023 110(11):1919-1937
Academic Journal
Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A
American Journal of Human Genetics. 108(1)
Academic Journal
Waltz, Margaret; Yan, Haoyang; Cadigan, R. Jean; Canter, Courtney; Bain, Lizzy; Bensen, Jeannette T.; Conway, Carol; Haldeman-Englert, Chad; Farnan, Laura; M. Foreman, Ann Katherine; Grant, Tracey L.; Leach, Barbara; Lin, Feng-Chang; Mahla, Madeline; O'Daniel, Julianne M.; O'Neill, Suzanne C.; Smith, Gerri; Powell, Bradford C.; Berg, Jonathan S.; Rini, Christine M.
In Patient Education and Counseling April 2023 109
Academic Journal
Sarah R Poll; Renan Martin; Elizabeth Wohler; Elizabeth S Partan; Elizabeth Walek; Shaima Salman; Daniel Groepper; Lisa Kratz; Mirlene Cernach; Reynaldo Jesus-Garcia; Chad Haldeman-Englert; Yoon Jae Choi; Carol D Morris; Bernard Cohen; Julie Hoover-Fong; David Valle; Gregg L Semenza; Nara L M Sobreira
PLoS Genetics, Vol 18, Iss 12, p e1010504 (2022)
Academic Journal
Sureni V. Mullegama; Steven D. Klein; Stephen R. Williams; Jeffrey W. Innis; Frank J. Probst; Chad Haldeman-Englert; Julian A. Martinez-Agosto; Ying Yang; Yuchen Tian; Sarah H. Elsea; Toshihiko Ezashi
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Academic Journal
Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A.; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogné, Benjamin; Coubes, Christine; de Man, Stella A.; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Müller, Amelie J.; O’Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlüter, Agatha; Schönewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmée; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmüller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gómez-Puertas, Paulino; Pujol, Aurora; Tümer, Zeynep
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(5):888-899
Academic Journal
Poll, Sarah R.; Martin, Renan; Wohler, Elizabeth; Partan, Elizabeth S.; Walek, Elizabeth; Salman, Shaima; Groepper, Daniel; Kratz, Lisa; Cernach, Mirlene; Jesus-Garcia, Reynaldo; Haldeman-Englert, Chad; Choi, Yoon Jae; Morris, Carol D.; Cohen, Bernard; Hoover-Fong, Julie; Valle, David; Semenza, Gregg L.; Sobreira, Nara L. M.
PLoS Genetics. December 8, 2022, Vol. 18 Issue 12, pe1010504
Academic Journal
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.; Undiagnosed Dis Network
Academic Journal
Mullegama, Sureni V.; Klein, Steven D.; Williams, Stephen R.; Innis, Jeffrey W.; Probst, Frank J.; Haldeman-Englert, Chad; Martinez-Agosto, Julian A.; Yang, Ying; Tian, Yuchen; Elsea, Sarah H.; Ezashi, Toshihiko
Scientific Reports. 11(1)
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