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Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update

Burton B.K.Hickey, R.Hitchins L. Int J Neonatal Screen. 2021 Sep 3; 6(3):73

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene

Zhou Y, Shapiro MJ, Burton BK, Mets MB, Kurup SP Am J Ophthalmol Case Rep. 2021 Jun 17; 23:101151

Anterior Cruciate Ligament Injury Incidence in Adolescent Athletes: A Systematic Review and Meta-analysis

Bram, J. T., Magee, L. C., Mehta, N. N., Patel, N. M., & Ganley, T. J. Am J Sports Med. 2021 Jun 1; 49(7):1962-1972

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

Qi Y, Patel G, Henshaw J, Gupta S, Olbertz J, Larimore K, Harding CO, Merilainen M, Zori R, Longo N, Burton BK, Li M, Gu Z, Zoog SJ, Weng HH, Schweighardt B Clin Transl Sci .. 2021 May 31; 10:1111/cts.13043

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A Am J Hum Genet. 2021 May 6; 108(5):857-873