Burrage, L.C., Reynolds, J.J., Baratang, N.V., Phillips, J.B., Wegner, J., McFarquhar, A., Higgs, M.R., Christiansen, A.E., Lanza, D.G., Seavitt, J.R., Jain, M., Li, X., Parry, D.A., Raman, V., Chitayat, D., Chinn, I.K., Bertuch, A.A., Karaviti, L., Schlesinger, A.E., Earl, D., Bamshad, M., Savarirayan, R., Doddapaneni, H., Muzny, D., Jhangiani, S.N., Eng, C.M., Gibbs, R.A., Bi, W., Emrick, L., Rosenfeld, J.A., Postlethwait, J., Westerfield, M., Dickinson, M.E., Beaudet, A.L., Ranza, E., Huber, C., Cormier-Daire, V., Shen, W., Mao, R., Heaney, J.D., Orange, J.S., University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola, D., Yamamoto, G.L., Baratela, W.A.R., Butler, M.G., Ali, A., Adeli, M., Cohn, D.H., Krakow, D., Jackson, A.P., Lees, M., Offiah, A.C., Carlston, C.M., Carey, J.C., Stewart, G.S., Bacino, C.A., Campeau, P.M., Lee, B. (2019) Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American journal of human genetics. 104(3):422-438

Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903

Burrage, L.C., Reynolds, J.J., Baratang, N.V., Phillips, J.B., Wegner, J., McFarquhar, A., Higgs, M.R., Christiansen, A.E., Lanza, D.G., Seavitt, J.R., Jain, M., Li, X., Parry, D.A., Raman, V., Chitayat, D., Chinn, I.K., Bertuch, A.A., Karaviti, L., Schlesinger, A.E., Earl, D., Bamshad, M., Savarirayan, R., Doddapaneni, H., Muzny, D., Jhangiani, S.N., Eng, C.M., Gibbs, R.A., Bi, W., Emrick, L., Rosenfeld, J.A., Postlethwait, J., Westerfield, M., Dickinson, M.E., Beaudet, A.L., Ranza, E., Huber, C., Cormier-Daire, V., Shen, W., Mao, R., Heaney, J.D., Orange, J.S., University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola, D., Yamamoto, G.L., Baratela, W.A.R., Butler, M.G., Ali, A., Adeli, M., Cohn, D.H., Krakow, D., Jackson, A.P., Lees, M., Offiah, A.C., Carlston, C.M., Carey, J.C., Stewart, G.S., Bacino, C.A., Campeau, P.M., Lee, B. (2019) Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American journal of human genetics. 104(3):422-438

Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903