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Page 1
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: sliepka jm. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Neuroimaging findings of extensive sphenoethmoidal dysplasia in NF1.
Tam A, Sliepka JM, Bellur S, Bray CD, Lincoln CM, Nagamani SCS. Tam A, et al. Among authors: sliepka jm. Clin Imaging. 2018 Sep-Oct;51:160-163. doi: 10.1016/j.clinimag.2018.04.017. Epub 2018 May 16. Clin Imaging. 2018. PMID: 29787982 Free PMC article.
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
Sliepka JM, McGriff SC, Rossetti LZ, Bizargity P, Streff H, Lee YS, Dai H, Polubothu S, Lee G, Ren V, Hunter JV, Curry DJ, Scaglia F, Adesina AM, Ali I, Kinsler V, Burrage LC, Marafi D. Sliepka JM, et al. Neurol Genet. 2019 Oct 30;5(6):e366. doi: 10.1212/NXG.0000000000000366. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872050 Free PMC article.
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.
Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium; Nagamani SC, Raggio CL. Bains JS, et al. Among authors: sliepka jm. JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May. JBMR Plus. 2019. PMID: 31131341 Free PMC article.