Bonora, E., Bianco, F., Cordeddu, L., Bamshad, M., Francescatto, L., Dowless, D., Stanghellini, V., Cogliandro, R.F., Lindberg, G., Mungan, Z., Cefle, K., Ozcelik, T., Palanduz, S., Ozturk, S., Gedikbasi, A., Gori, A., Pippucci, T., Graziano, C., Volta, U., Caio, G., Barbara, G., D'Amato, M., Seri, M., Katsanis, N., Romeo, G., De Giorgio, R. (2015) Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction. Gastroenterology. 148(4):771-782.e11

Jiang, Q., Arnold, S., Heanue, T., Kilambi, K.P., Doan, B., Kapoor, A., Ling, A.Y., Sosa, M.X., Guy, M., Jiang, Q., Burzynski, G., West, K., Bessling, S., Griseri, P., Amiel, J., Fernandez, R.M., Verheij, J.B., Hofstra, R.M., Borrego, S., Lyonnet, S., Ceccherini, I., Gray, J.J., Pachnis, V., McCallion, A.S., Chakravarti, A. (2015) Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability. American journal of human genetics. 96:581-596

Kuil, L.E., MacKenzie, K.C., Tang, C.S., Windster, J.D., Le, T.L., Karim, A., de Graaf, B.M., van der Helm, R., van Bever, Y., Sloots, C.E.J., Meeussen, C., Tibboel, D., de Klein, A., Wijnen, R.M.H., Amiel, J., Lyonnet, S., Garcia-Barcelo, M.M., Tam, P.K.H., Alves, M.M., Brooks, A.S., Hofstra, R.M.W., Brosens, E. (2021) Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PLoS Genetics. 17:e1009698

Tilghman, J.M., Ling, A.Y., Turner, T.N., Sosa, M.X., Krumm, N., Chatterjee, S., Kapoor, A., Coe, B.P., Nguyen, K.H., Gupta, N., Gabriel, S., Eichler, E.E., Berrios, C., Chakravarti, A. (2019) Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine. 380:1421-1432

Kuil, L.E., MacKenzie, K.C., Tang, C.S., Windster, J.D., Le, T.L., Karim, A., de Graaf, B.M., van der Helm, R., van Bever, Y., Sloots, C.E.J., Meeussen, C., Tibboel, D., de Klein, A., Wijnen, R.M.H., Amiel, J., Lyonnet, S., Garcia-Barcelo, M.M., Tam, P.K.H., Alves, M.M., Brooks, A.S., Hofstra, R.M.W., Brosens, E. (2021) Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PLoS Genetics. 17:e1009698

Bonora, E., Bianco, F., Cordeddu, L., Bamshad, M., Francescatto, L., Dowless, D., Stanghellini, V., Cogliandro, R.F., Lindberg, G., Mungan, Z., Cefle, K., Ozcelik, T., Palanduz, S., Ozturk, S., Gedikbasi, A., Gori, A., Pippucci, T., Graziano, C., Volta, U., Caio, G., Barbara, G., D'Amato, M., Seri, M., Katsanis, N., Romeo, G., De Giorgio, R. (2015) Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction. Gastroenterology. 148(4):771-782.e11

Knight, R.D., Mebus, K., d'Angelo, A., Yokoya, K., Heanue, T., and Roehl, H. (2011) Ret signalling integrates a craniofacial muscle module during development. Development (Cambridge, England). 138(10):2015-2024

Heanue, T.A., and Pachnis, V. (2008) Ret isoform function and marker gene expression in the enteric nervous system is conserved across diverse vertebrate species. Mechanisms of Development. 125(8):687-699