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McDonald-McGinn,                DM,                Sullivan,              KE, Marino,                B, Philip,                N, Swillen,                A,              Vorstman, JA,              et al. 22q11.2 deletion            syndrome. Nat Rev Dis Primers          2015;1: 15071.","DOI":"10.1038\/nrdp.2015.71"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Jerome,              LA,                Papaioannou,              VE. DiGeorge            syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat            Genet          2001;27: 286\u201391.","DOI":"10.1038\/85845"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Lindsay,                EA,              Vitelli, F,                Su, H,                Morishima,              M, Huynh,                T,              Pramparo, T,              et al. Tbx1 haploinsufficieny in the            DiGeorge syndrome region causes aortic arch defects in mice.            Nature          2001;410: 97\u2013101.","DOI":"10.1038\/35065105"},{"key":"4","doi-asserted-by":"publisher","unstructured":"4. Merscher,                S, Funke,                B, Epstein,                JA, Heyer,                J, Puech,                A, Lu,                MM, et al.            TBX1 is responsible for cardiovascular defects in            velo-cardio-facial\/DiGeorge syndrome. Cell          2001;104: 619\u201329.","DOI":"10.1016\/S0092-8674(01)00247-1"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Gong,              W, Gottlieb,                S, Collins,                J, Blescia,                A, Dietz,                H,                Goldmuntz,              E, et al.            Mutation analysis of TBX1 in non-deleted patients with features of            DGS\/VCFS or isolated cardiovascular defects. J Med            Genet          2001;38: E45.","DOI":"10.1136\/jmg.38.12.e45"},{"key":"6","doi-asserted-by":"publisher","unstructured":"6. Yagi,              H, Furutani,                Y, Hamada,                H, Sasaki,                T, Asakawa,                S,                Minoshima,              S, et al.            Role of TBX1 in human del22q11.2 syndrome.            Lancet          2003;362: 1366\u201373.","DOI":"10.1016\/S0140-6736(03)14632-6"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Zweier,              C, Sticht,                H,                Aydin-Yaylag\u00fcl,              I, Campbell,                CE, Rauch,                A. Human TBX1            missense mutations cause gain of function resulting in the same phenotype as 22q11.2            deletions. Am J Hum Genet          2007;80: 510\u20137.","DOI":"10.1086\/511993"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Ogata,              T, Niihori,                T, Tanaka,                N, Kawai,                M,                Nagashima,              T, Funayama,                R, et al.            TBX1 mutation identified by exome sequencing in a Japanese family with            22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.            PLoS ONE          2014;9: e91598.","DOI":"10.1371\/journal.pone.0091598"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Pan,              Y, Wang,                ZG, Liu,                XY, Zhao,                H, Zhou,                N, Zheng,                GF, et al.            A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart            Disease. Pediatr Cardiol          2015;36: 1400\u201310.","DOI":"10.1007\/s00246-015-1173-x"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Liao,              J, Kochilas,                L,                Nowotschin,              S, Arnold,                JS,                Aggarwal,              VS, Epstein,                JA, et al.            Full spectrum of malformations in velo-cardio-facial syndrome\/DiGeorge            syndrome mouse models by altering Tbx1 dosage. Hum Mol            Genet          2004;13: 1577\u201385.","DOI":"10.1093\/hmg\/ddh176"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Breckpot,                J,                Thienpont,              B, Bauters,                M,                Tranchevent,              LC, Gewillig,                M,                Allegaert,              K, et al.            Congenital heart defects in a novel recurrent 22q11.2 deletion harboring            the genes CRKL and MAPK1. Am J Med Genet A          2012;158A: 574\u201380.","DOI":"10.1002\/ajmg.a.35217"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Rump,              P, de Leeuw,                N, van                Essen, AJ,                Verschuuren-Bemelmans,              CC,                Veenstra-Knol,              HE, Swinkels,                ME, et al.            Central 22q11.2 deletions. Am J Med Genet            A          2014;164A: 2707\u201323.","DOI":"10.1002\/ajmg.a.36711"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Racedo,              SE,                McDonald-McGinn,              DM, Chung,                JH,                Goldmuntz,              E, Zackai,                E, Emanuel,                BS, et al.            Mouse and human CRKL is dosage sensitive for cardiac outflow tract            formation. Am J Hum Genet          2015;96: 235\u201344.","DOI":"10.1016\/j.ajhg.2014.12.025"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Ming,              JE,                McDonald-McGinn,              DM, Megerian,                TE,                Driscoll,              DA, Elias,                ER,              Russell, BM,              et al. Skeletal anomalies and deformities            in patients with deletions of 22q11. 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