Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors by Alankarage, D, Enriquez, A, Steiner, RD, Raggio, C, Higgins, M, Milnes, D, Humphreys, DT, Duncan, EL, Sparrow, DB, Giampietro, PF, Chapman, G, Dunwoodie, SL

Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants by Chapman, G, Moreau, J, Ip, E, Szot, J, Iyer, K, Shi, H, Yam, M, O'Reilly, V, Enriquez, A, Greasby, J, Alankarage, D, Martin, E, Hanna, B, Edwards, M, Monger, S, Blue, G, Winlaw, D, Ritchie, H, Grieve, S, Giannoulatou, E, Sparrow, D, Dunwoodie, S

NAD deficiency, congenital malformations and niacin supplementation by Shi, H, Enriquez, A, Rapadas, M, Martin, E, Wang, R, Moreau, J, Lim, C, Szot, J, Ip, E, Hughes, J, Sugimoto, K, Humphreys, D, McInerney-Leo, A, Leo, P, Maghzal, G, Halliday, J, Smith, J, Colley, A, Mark, P, Collins, F, Sillence, D, Winlaw, D, Ho, J, Guillemin, G, Brown, M, Kikuchi, K, Thomas, P, Stocker, R, Giannoulatou, E, Chapman, G, Duncan, E, Sparrow, D, Dunwoodie, S

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice by Martin, E, Enriquez, A, Sparrow, D, Humphreys, D, McInerney-Leo, A, Leo, P, Duncan, E, Iyer, K, Greasby, J, Ip, E, Giannoulatou, E, Sheng, D, Wohler, E, Dimartino, C, Amiel, J, Capri, Y, Lehall, D, Mory, A, Wilnai, Y, Lebenthal, Y, Gharavi, A, Krzemień, G, Miklaszewska, M, Steiner, R, Raggio, C, Blank, R, Feldman, H, Rasouly, H, Sobreira, N, Jobling, R, Gordon, C, Giampietro, P, Dunwoodie, S, Chapman, G