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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. 1-gen-2011 Mchugh, Dm; Cameron, Ca; Abdenur, Je; Abdulrahman, M; Adair, O; Al Nuaimi, Sa; Åhlman, H; Allen, Jj; Antonozzi, I; Archer, S; Au, S; Auray Blais, C; Baker, M; Bamforth, F; Beckmann, K; Pino, Gb; Berberich, Sl; Binard, R; Boemer, F; Bonham, J; Breen, Nn; Bryant, Sc; Caggana, M; Caldwell, Sg; Camilot, M; Campbell, C; Carducci, C; Bryant, Sc; Caggana, M; Caldwell, Sg; Camilot, M; Campbell, C; Carducci, C; Cariappa, R; Carlisle, C; Caruso, U; Cassanello, M; Castilla, Am; Ramos, De; Chakraborty, P; Chandrasekar, R; Ramos, Ac; Cheillan, D; Chien, Yh; Childs, Ta; Chrastina, P; Sica, Yc; de Juan, Ja; Colandre, Me; Espinoza, Vc; Corso, Gaetano; Currier, R; Cyr, D; Czuczy, N; D'Apolito, Oceania; Davis, T; de Sain Van der Velden, Mg; Delgado Pecellin, C; Di Gangi, Im; Di Stefano, Cm; Dotsikas, Y; Downing, M; Downs, Sm; Dy, B; Dymerski, M; Rueda, I; Elvers, B; Eaton, R; Eckerd, Bm; El Mougy, F; Eroh, S; Espada, M; Evans, C; Fawbush, S; Fijolek, Kf; Fisher, L; Franzson, L; Frazier, Dm; Garcia, Lr; Bermejo, Ms; Gavrilov, D; Gerace, R; Giordano, G; Irazabal, Yg; Greed, Lc; Grier, R; Grycki, E; Gu, X; Gulamali Majid, F; Hagar, Af; Han, L; Hannon, Wh; Haslip, C; Hassan, Fa; He, M; Hietala, A; Himstedt, L; Hoffman, Gl; Hoffman, W; Hoggatt, P; Hopkins, Pv; Hougaard, Dm; Hughes, K; Hunt, Pr; Hwu, Wl; Hynes, J; Ibarra González, I; Ingham, Ca; Ivanova, M; Jacox, Wb; John, C; Johnson, Jp; Jónsson, Jj; Karg, E; Kasper, D; Klopper, B; Katakouzinos, D; Khneisser, I; Knoll, D; Kobayashi, H; Koneski, R; Kozich, V; Kouapei, R; Kohlmueller, D; Kremensky, I; la Marca, G; Lavochkin, M; Lee, Sy; Lehotay, Dc; Lemes, A; Lepage, J; Lesko, B; Lewis, B; Lim, C; Linard, S; Lindner, M; Lloyd Puryear, Ma; Lorey, F; Loukas, Yl; Luedtke, J; Maffitt, N; Magee, Jf; Manning, A; Manos, S; Marie, S; Hadachi, Sm; Marquardt, G; Martin, Sj; Matern, D; Mayfield Gibson, Sk; Mayne, P; Mccallister, Td; Mccann, M; Mcclure, J; Mcgill, Jj; Mckeever, Cd; Mcneilly, B; Morrissey, Ma; Moutsatsou, P; Mulcahy, Ea; Nikoloudis, D; Norgaard Pedersen, B; Oglesbee, D; Oltarzewski, M; Ombrone, D; Ojodu, J; Papakonstantinou, V; Reoyo, Sp; Park, Hd; Pasquali, M; Pasquini, E; Patel, P; Pass, Ka; Peterson, C; Pettersen, Rd; Pitt, Jj; Poh, S; Pollak, A; Porter, C; Poston, Pa; Price, Rw; Queijo, C; Quesada, J; Randell, E; Ranieri, E; Raymond, K; Reddic, Je; Reuben, A; Ricciardi, C; Rinaldo, P; Rivera, Jd; Roberts, A; Rocha, H; Roche, G; Greenberg, Cr; Mellado, Jm; Juan Fita, Mj; Ruiz, C; Ruoppolo, M; Rutledge, Sl; Ryu, E; Saban, C; Sahai, I; García Blanco, Mi; Santiago Borrero, P; Schenone, A; Schoos, R; Schweitzer, B; Scott, P; Seashore, Mr; Seeterlin, Ma; Sesser, De; Sevier, Dw; Shone, Sm; Sinclair, G; Skrinska, Va; Stanley, El; Strovel, Et; Jones, Al; Sunny, S; Takats, Z; Tanyalcin, T; Teofoli, F; Thompson, Jr; Tomashitis, K; Domingos, Mt; Torres, J; Torres, R; Tortorelli, S; Turi, S; Turner, K; Tzanakos, N; Valiente, Ag; Vallance, H; Vela Amieva, M; Vilarinho, L; von Döbeln, U; Vincent, Mf; Vorster, Bc; Watson, Ms; Webster, D; Weiss, S; Wilcken, B; Wiley, V; Williams, Sk; Willis, Sa; Woontner, M; Wright, K; Yahyaoui, R; Yamaguchi, S; Yssel, M; Zakowicz, W. M.
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (Genetics in Medicine, (2020), 22, 5, (867-877), 10.1038/s41436-019-0743-3) 1-gen-2020 Cuvertino, S.; Hartill, V.; Colyer, A.; Garner, T.; Nair, N.; Al-Gazali, L.; Canham, N.; Faundes, V.; Flinter, F.; Hertecant, J.; Holder-Espinasse, M.; Jackson, B.; Lynch, S. A.; Nadat, F.; Narasimhan, V. M.; Peckham, M.; Sellers, R.; Seri, M.; Montanari, F.; Southgate, L.; Squeo, G. M.; Trembath, R.; van Heel, D.; Venuto, S.; Weisberg, D.; Stals, K.; Ellard, S.; Barton, A.; Kimber, S. J.; Sheridan, E.; Merla, G.; Stevens, A.; Johnson, C. A.; Banka, S.
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement 1-gen-2022 Micale, L; Morlino, S; Carbone, A; Carissimo, A; Nardella, G; Fusco, C; Palumbo, O; Schirizzi, A; Russo, F; Mazzoccoli, G; Breckpot, J; De Luca, C; Ferraris, A; Giunta, C; Grammatico, P; Haanpaa, M K; Mancano, G; Forzano, G; Cacchiarelli, D; Van Esch, H; Callewaert, B; Rohrbach, M; Castori, M.
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