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Academic Journal
In: Human Genetics . (Human Genetics, April 2024, 143(4):607-624)
Academic Journal
In: Current Protocols . (Current Protocols, September 2022, 2(9))
Academic Journal
Harris, H.K.; Nakayama, T.; Lai, J.; Zhao, B.; Argyrou, N.; Gubbels, C.S.; Soucy, A.; Genetti, C.A.; Suslovitch, V.; Rodan, L.H.; Agrawal, P.B.; Beggs, A.H.; Yu, T.W.; Tiller, G.E.; Lesca, G.; Labalme, A.; Poisson, A.; Gripp, K.W.; Baker, L.; Asadollahi, R.; Rauch, A.; Boonsawat, P.; Hamosh, A.; Applegate, C.D.; Turnpenny, P.D.; Simon, M.E.H.; Volker-Touw, C.M.L.; Gassen, K.L.I.; Binsbergen, E.; Pfundt, R.; Gardeitchik, T.; Vries, B.B.A.; Immken, L.D.L.; Buchanan, C.; Willing, M.; Toler, T.L.; Fassi, E.; Vansenne, F.; Wang, X.; Ambrus, J.L.; Fannemel, M.; Blomhoff, A.; Posey, J.E.; Agolini, E.; Novelli, A.; Fagerberg, C.R.; Larsen, M.J.; Kibaek, M.; Payne, K.K.; Walsh, L.E.; Aldinger, K.A.; Balciuniene, J.; Skraban, C.; Gray, C.; Murrell, J.; Bupp, C.P.; Pascolini, G.; Grammatico, P.; Broly, M.; Küry, S.; Nizon, M.; Rasool, I.G.; Zahoor, M.Y.; Kraus, C.; Reis, A.; Iqbal, M.; Uguen, K.; Audebert-Bellanger, S.; Ferec, C.; Redon, S.; Baker, J.; Wu, Y.; Zampino, G.; Syrbe, S.; Brosse, I.; Jamra, R.A.; Dobyns, W.B.; Cohen, L.L.; Mignot, C.; Keren, B.; Courtin, T.
In: Genetics in Medicine . (Genetics in Medicine, June 2021, 23(6):1028-1040)
Academic Journal
Cif, L.; Demailly, D.; Seng, E.C.; Cyprien, F.; Gonzalez, V.; Poulen, G.; Roujeau, T.; Coubes, P.; Lin, J.-P.; Sa, M.; Hasegawa, H.; Barwick, K.E.; Abela, L.; Steel, D.; Ngoh, A.; Trump, N.; Meyer, E.; Gorman, K.M.; Kurian, M.A.; Malhotra, S.; Topf, M.; Chong, W.K.; Sanchis-Juan, A.; Raymond, F.L.; Vasques, X.; Rankin, J.; Baple, E.L.; Allain, M.W.; Farrelly, E.; Stevenson, D.A.; Applegate, C.D.; Hamosh, A.; Isfahani, S.A.; Hallett, M.; Baleine, J.; Cambonie, G.; Milesi, C.; Balint, B.; Bhatia, K.P.; Bassetti, J.A.; Blanchet, C.; Mondain, M.; Burglen, L.; Bastaraud, S.C.; d’Hardemare, V.; Dorison, N.; Coubes, C.; Doja, A.; Doummar, D.; Dy-Hollins, M.E.; Sharma, N.; de Gusmão, C.M.; Fitzpatrick, D.R.; Fearon, C.; Lynch, T.; Fieg, E.L.; Krier, J.B.; Pallais, J.C.; Fogel, B.L.; Lee, H.; Martinez-Agosto, J.A.; Signer, R.; Forman, E.B.; King, M.D.; Fox, R.G.; Gregory, A.; Hayflick, S.J.; Jeong, S.Y.; Rogers, C.; Zhen, D.; Gahl, W.A.; Soldatos, A.G.; Toro, C.; Galosi, S.; Graves, T.D.; Hully, M.; Jansen, S.; Rinne, T.; de Vries, B.B.A.; Krystal, S.; Kumar, K.R.; Laurencin, C.; Lesca, G.; François, L.L.; Mahant, N.; Morales-Briceno, H.; Fung, V.S.C.; Wong, D.A.; Mills, K.A.; Tchan, M.; Ostergaard, J.R.; Pal, S.; Verma, I.C.; Pavillard, F.; Perrigault, P.-F.; Petersen, A.K.; Polo, G.; Roubertie, A.; Sahagian, M.; Friedman, J.; Schaefer, E.; Selim, L.; Selway, R.; Stewart, F.; Znaczko, A.; Wilson, J.L.; Zaitoun, R.; Dale, R.C.; Mohammad, S.S.; Rohena, L.; Waugh, J.L.
In: Brain . (Brain, 2020, 143(11):3242-3261)
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
Academic Journal
Fichtman, B.; Biran, N.; Zagairy, F.; Salzberg, Y.; Harel, A.; Harel, T.; Salah, S.; Shaag, A.; Elpeleg, O.; Applegate, C.D.; Ayoubieh, H.; Sobreira, N.; Hamosh, A.; Gilboa, T.; Edvardson, S.; Simanovsky, N.; Punzi, G.; Pierri, C.L.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 July 2019, 105(1):48-64)
Academic Journal
Wagner, C.L.; Hanumanthu, V.S.; Gable, D.L.; Kanakry, C.G.; Alder, J.K.; Luznik, L.; Armanios, M.; Conover Talbot, C.; Desiderio, S.; Abraham, R.S.; Hamm, D.; Applegate, C.D.; Siliciano, J.; Brooks Jackson, J.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 3 December 2018, 128(12):5222-5234)
Academic Journal
Pilarowski, G.O.; Boukas, L.; Vernon, H.J.; Applegate, C.D.; Bjornsson, H.T.; Cho, M.T.; Henderson, L.B.; Wentzensen, I.M.; Baskin, B.; Sacoto, M.J.G.; Gurnett, C.A.; Benke, P.J.; Beaver, E.; Heeley, J.M.; Medne, L.; Krantz, I.D.; Azage, M.; Niyazov, D.; Bowman, G.D.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 August 2018, 55(8):561-566)
Academic Journal
Alder, J.K.; Hanumanthu, V.S.; DeZern, A.E.; Stanley, S.E.; Danilova, L.; Applegate, C.D.; Brodsky, R.A.; Greider, C.W.; Armanios, M.; Strong, M.A.; Takemoto, C.M.; Casella, J.F.; Mohr, D.W.; Bolton, S.G.; Brooks Jackson, J.
In: Proceedings of the National Academy of Sciences of the United States of America . (Proceedings of the National Academy of Sciences of the United States of America, 6 March 2018, 115(10):E2358-E2365)
Academic Journal
Berrios, C.; Raraigh, K.; Applegate, C.D.; Bergner, A.L.; James, C.A.; Murray, B.; Tichnell, C.; Bollinger, J.
In: Journal of Genetic Counseling . (Journal of Genetic Counseling, 1 February 2018, 27(1):263-273)
Academic Journal
Bekheirnia, M.R.; Bekheirnia, N.; Gu, S.; Akdemir, Z.H.C.; Gambin, T.; Scott, D.A.; Yang, Y.; Craigen, W.J.; Hanchard, N.A.; Rosenfeld, J.A.; Lewis, R.A.; Gibbs, R.A.; Belmont, J.W.; Eng, C.; Lupski, J.R.; Lamb, D.J.; Janzen, N.K.; Gonzales, E.T.; Roth, D.R.; Michael, M.; Brewer, E.D.; Elenberg, E.; Kale, A.S.; Riley, A.A.; Swartz, S.J.; Srivaths, P.R.; Wenderfer, S.E.; Braun, M.C.; Bainbridge, M.N.; Jhangiani, S.N.; Muzny, D.M.; Bodurtha, J.; Applegate, C.D.; Velinov, M.; Myers, A.; Borovik, L.
In: Genetics in Medicine . (Genetics in Medicine, 1 April 2017, 19(4):412-420)
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[AR] Applegate, C.D.
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