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Barish, S.Senturk, M.Harland, J.Wangler, M.F.Yamamoto, S.Bellen, H.J.Minogue, A.L.Schoch, K.Jiang, Y.-H.Shashi, V.Seemann, J.H.Arur, S.Lopergolo, D.Fallerini, C.Ariani, F.Renieri, A.Mari, F.Stong, N.Kranz, P.G.Kansagra, S.Mikati, M.A.Jasien, J.El-Dairi, M.Galluzzi, P.Callens, S.Coucke, P.Dermaut, B.Hemelsoet, D.Poppe, B.Steyaert, W.Terryn, W.Van Coster, R.Acosta, M.T.Adam, M.Adams, D.R.Agrawal, P.B.Alejandro, M.E.Alvey, J.Amendola, L.Andrews, A.Ashley, E.A.Azamian, M.S.Bacino, C.A.Bademci, G.Baker, E.Balasubramanyam, A.Baldridge, D.Bale, J.Bamshad, M.Barbouth, D.Bayrak-Toydemir, P.Beck, A.Beggs, A.H.Behrens, E.Bejerano, G.Bennet, J.Berg-Rood, B.Bernstein, J.A.Berry, G.T.Bican, A.Bivona, S.Blue, E.Bohnsack, J.Bonnenmann, C.Bonner, D.Botto, L.Boyd, B.Briere, L.C.Brokamp, E.Brown, G.Burke, E.A.Burrage, L.C.Butte, M.J.Byers, P.Byrd, W.E.Carey, J.Carrasquillo, O.Peter Chang, T.C.Chanprasert, S.Chao, H.-T.Clark, G.D.Coakley, T.R.Cobban, L.A.Cogan, J.D.Coggins, M.Cole, F.S.Colley, H.A.Cooper, C.M.Cope, H.Craigen, W.J.Crouse, A.B.Cunningham, M.D’Souza, P.Dai, H.Dasari, S.Davids, M.Dayal, J.G.Deardorff, M.Dell’Angelica, E.C.Dhar, S.U.Dipple, K.Doherty, D.Dorrani, N.Douine, E.D.Draper, D.D.Duncan, L.Earl, D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Esteves, C.Estwick, T.Falk, M.Fernandez, L.Ferreira, C.Fieg, E.L.Findley, L.C.Fisher, P.G.Fogel, B.L.Forghani, I.Fresard, L.GahlIan-Glass, W.A.Godfrey, R.A.Golden-Grant, K.Goldman, A.M.Goldstein, D.B.Grajewski, A.Groden, C.A.Gropman, A.L.Gutierrez, I.Hahn, S.Hamid, R.Hanchard, N.A.Hassey, K.Hayes, N.High, F.Hing, A.Hisama, F.M.Holm, I.A.Hom, J.Horike-Pyne, M.Huang, A.Huang, Y.Isasi, R.Jamal, F.Jarvik, G.P.Jarvik, J.Jayadev, S.Johnston, J.M.Karaviti, L.Kelley, E.G.Kennedy, J.Kiley, D.Kohane, I.S.Kohler, J.N.Krakow, D.Krasnewich, D.M.Kravets, E.Korrick, S.Koziura, M.Krier, J.B.Lalani, S.R.Lam, B.Lam, C.Lanpher, B.C.Lanza, I.R.Christopher Lau, C.LeBlanc, K.Lee, B.H.Lee, H.Levitt, R.Lewis, R.A.Lincoln, S.A.Liu, P.Liu, X.Z.Longo, N.Loo, S.K.Loscalzo, J.Maas, R.L.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Majcherska, M.M.Mak, B.Malicdan, M.C.V.Mamounas, L.A.Manolio, T.A.Mao, R.Maravilla, K.Markello, T.C.Marom, R.Marth, G.Martin, B.A.Martin, M.G.Martínez-Agosto, J.A.Marwaha, S.McCauley, J.McConkie-Rosell, A.McCormack, C.E.McCray, A.T.McGee, E.Mefford, H.Lawrence Merritt, J.Might, M.Mirzaa, G.Morava, E.Moretti, P.M.Morimoto, M.Mulvihill, J.J.Murdock, D.R.Nakano-Okuno, M.Nath, A.Nelson, S.F.Newman, J.H.Nicholas, S.K.Nickerson, D.Nieves-Rodriguez, S.Novacic, D.Oglesbee, D.Orengo, J.P.Pace, L.Pak, S.Carl Pallais, J.Palmer, C.G.S.Papp, J.C.Parker, N.H.Phillips, J.A.Posey, J.E.Potocki, L.Pusey, B.N.Quinlan, A.Raskind, W.Raja, A.N.Rao, D.A.Renteria, G.Reuter, C.M.Rives, L.Robertson, A.K.Rodan, L.H.Rosenfeld, J.A.Rosenwasser, N.Ruzhnikov, M.Sacco, R.Sampson, J.B.Samson, S.L.Saporta, M.Ron Scott, C.Schaechter, J.Schedl, T.Schoch, K.Scott, D.A.Sharma, P.Shashi, V.Shin, J.Signer, R.Sillari, C.H.Silverman, E.K.Sinsheimer, J.S.Sisco, K.Smith, E.C.Smith, K.S.Solem, E.Solnica-Krezel, L.Spillmann, R.C.Stoler, J.M.Stong, N.Sullivan, J.A.Sullivan, K.Sun, A.Sutton, S.Sweetser, D.A.Sybert, V.Tabor, H.K.Tamburro, C.P.Tan, Q.K.-G.Tekin, M.Telischi, F.Thorson, W.Tifft, C.J.Toro, C.Tran, A.A.Tucker, B.M.Urv, T.K.Vanderver, A.Velinder, M.Viskochil, D.Vogel, T.P.Wahl, C.E.Wallace, S.Walley, N.M.Walsh, C.A.Walker, M.Wambach, J.Wan, J.Wang, L.-K.Wangler, M.F.Ward, P.A.Wegner, D.Wener, M.Wenger, T.Perry, K.W.Westerfield, M.Wheeler, M.T.Whitlock, J.Wolfe, L.A.Woods, J.D.Yamamoto, S.Yang, J.Yu, G.Zastrow, D.B.Zhao, C.Zuchner, S.
In: Human Molecular Genetics. (Human Molecular Genetics, 2022, 31(7):2934-2950)
Academic Journal
In: BMJ Case Reports. (BMJ Case Reports, 23 January 2020, 13(1))
Academic Journal
Marcogliese, P.C.Rosenfeld, J.A.Chung, H.-L.Zuo, Z.Lee, P.-T.Kanca, O.Xia, F.Yang, Y.Lee, B.Yamamoto, S.Wangler, M.F.Bellen, H.J.Shashi, V.Spillmann, R.C.Riley, K.Koeberl, D.D.Pena, L.D.M.Stong, N.Goldstein, D.B.Koenig, M.K.Martínez-Agosto, J.A.Herzog, M.Nelson, S.F.Graham, J.M.Chen, A.H.Dickson, P.I.Lin, H.J.Vera, M.U.Salamon, N.Ortiz, D.Infante, E.Steyaert, W.Dermaut, B.Poppe, B.Smith, E.C.Jasien, J.Kansagra, S.Spiridigliozzi, G.El-Dairi, M.Lark, R.Golden-Grant, K.Mirzaa, G.Hemelsoet, D.Callens, S.Coucke, P.Dermaut, B.Hemelsoet, D.Poppe, B.Steyaert, W.Terryn, W.Van Coster, R.Adams, D.R.Alejandro, M.E.Allard, P.Azamian, M.S.Bacino, C.A.Balasubramanyam, A.Barseghyan, H.Batzli, G.F.Beggs, A.H.Behnam, B.Bican, A.Bick, D.P.Birch, C.L.Bonner, D.Boone, B.E.Bostwick, B.L.Briere, L.C.Brown, D.M.Brush, M.Burke, E.A.Burrage, L.C.Chen, S.Clark, G.D.Coakley, T.R.Cogan, J.D.Cooper, C.M.Cope, H.Craigen, W.J.D'Souza, P.Davids, M.Dayal, J.G.Dell'Angelica, E.C.Dhar, S.U.Dillon, A.Dipple, K.M.Donnell-Fink, L.A.Dorrani, N.Dorset, D.C.Douine, E.D.Draper, D.D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Eskin, A.Esteves, C.Estwick, T.Ferreira, C.Fogel, B.L.Friedman, N.D.Gahl, W.A.Glanton, E.Godfrey, R.A.Goldstein, D.B.Gould, S.E.Gourdine, J.-P.F.Groden, C.A.Gropman, A.L.Haendel, M.Hamid, R.Hanchard, N.A.Handley, L.H.Herzog, M.R.Holm, I.A.Hom, J.Howerton, E.M.Huang, Y.Jacob, H.J.Jain, M.Jiang, Y.-H.Johnston, J.M.Jones, A.L.Kohane, I.S.Krasnewich, D.M.Krieg, E.L.Krier, J.B.Lalani, S.R.Lau, C.C.Lazar, J.Lee, H.Levy, S.E.Lewis, R.A.Lincoln, S.A.Lipson, A.Loo, S.K.Loscalzo, J.Maas, R.L.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Majcherska, M.M.Malicdan, M.C.V.Mamounas, L.A.Manolio, T.A.Markello, T.C.Marom, R.Martínez-Agosto, J.A.Marwaha, S.May, T.McConkie-Rosell, A.McCormack, C.E.McCray, A.T.Might, M.Moretti, P.M.Morimoto, M.Mulvihill, J.J.Murphy, J.L.Muzny, D.M.Nehrebecky, M.E.Nelson, S.F.Newberry, J.S.Newman, J.H.Nicholas, S.K.Novacic, D.Orange, J.S.Pallais, J.C.Palmer, C.G.S.Papp, J.C.Parker, N.H.Pena, L.D.M.Phillips, J.A.Posey, J.E.Postlethwait, J.H.Potocki, L.Pusey, B.N.Reuter, C.M.Robertson, A.K.Rodan, L.H.Rosenfeld, J.A.Sampson, J.B.Samson, S.L.Schoch, K.Schroeder, M.C.Scott, D.A.Sharma, P.Shashi, V.Signer, R.Silverman, E.K.Sinsheimer, J.S.Smith, K.S.Spillmann, R.C.Splinter, K.Stoler, J.M.Stong, N.Sullivan, J.A.Sweetser, D.A.Tifft, C.J.Toro, C.Tran, A.A.Urv, T.K.Valivullah, Z.M.Vilain, E.Vogel, T.P.Wahl, C.E.Walley, N.M.Walsh, C.A.Ward, P.A.Waters, K.M.Westerfield, M.Wise, A.L.Wolfe, L.A.Worthey, E.A.Yamamoto, S.Yang, Y.Yu, G.Zastrow, D.B.Zheng, A.
In: American Journal of Human Genetics. (American Journal of Human Genetics, 2 August 2018, 103(2):245-260)
Academic Journal
In: Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine. (Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine, 4 May 2017, 72(3):198-200)
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