Researcher Profile

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

Ficicioglu, C, Ahrens-Nicklas, RC, Barch, J, Cuddapah, SR, Diboscio, BS, Diperna, JC, Gordon, PL, Henderson, N, Menello, C, Luongo, N, Ortiz, D & Xiao, R 2020, 'Newborn Screening for Pompe Disease: Pennsylvania Experience', International Journal of Neonatal Screening, vol. 6, no. 4, 89. https://doi.org/10.3390/ijns6040089

The PKU Lost to Follow-Up Recommendations Group 2020, 'Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations', Molecular Genetics and Metabolism Reports, vol. 23, 100571. https://doi.org/10.1016/j.ymgmr.2020.100571