Researcher Profile

Schmid, CM, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, AA, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, TB, Falb, RJ, Müller, AJ, Linden, T, Haldeman-Englert, CR, Ockeloen, CW, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, JA, Hoefele, J, Brunet, T, Riedhammer, KM, Elloumi, HZ, Person, R, Zou, F, Kahle, JJ, Cremer, K, Schmidt, A, Delrue, MA, Almeida, PM, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, MJM, Elshafie, RM, Alsharhan, H, Hillman, PR, Dunnington, LA, Braakman, HMH, McKee, S, Moresco, A, Ignat, AD, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, SS, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, CG, Abreu, NJ, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2024, 'Further delineation of the SCAF4-associated neurodevelopmental disorder', European Journal of Human Genetics. https://doi.org/10.1038/s41431-024-01760-2

Sekhar, DL, Hoke, AM, Khan, M, Gordon, PL, Conahan, EK & Kraschnewski, JL 2024, 'The adolescent health network: A unique approach to sustained adolescent stakeholder engagement', Journal of Clinical and Translational Science, vol. 8, no. 1, e116. https://doi.org/10.1017/cts.2024.567

Holtz, AM, VanCoillie, R, Vansickle, EA, Carere, DA, Withrow, K, Torti, E, Juusola, J, Millan, F, Person, R, Guillen Sacoto, MJ, Si, Y, Wentzensen, IM, Pugh, J, Vasileiou, G, Rieger, M, Reis, A, Argilli, E, Sherr, EH, Aldinger, KA, Dobyns, WB, Brunet, T, Hoefele, J, Wagner, M, Haber, B, Kotzaeridou, U, Keren, B, Heron, D, Mignot, C, Heide, S, Courtin, T, Buratti, J, Murugasen, S, Donald, KA, O'Heir, E, Moody, S, Kim, KH, Burton, BK, Yoon, G, Campo, MD, Masser-Frye, D, Kozenko, M, Parkinson, C, Sell, SL, Gordon, PL, Prokop, JW, Karaa, A, Bupp, C & Raby, BA 2022, 'Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling', Genetics in Medicine, vol. 24, no. 10, pp. 2065-2078. https://doi.org/10.1016/j.gim.2022.07.005