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Page 1
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Peng Y, et al. Among authors: dineen r. Hum Mol Genet. 2017 Dec 15;26(24):4937-4950. doi: 10.1093/hmg/ddx377. Hum Mol Genet. 2017. PMID: 29040572 Free PMC article.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A. Mattioli F, et al. Among authors: dineen r. Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197073 Free PMC article.
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman JD, Angle B, Slotnick RN, Simpson BN, Lewis AM, Magoulas PL, Bontempo K, Schulze J, Tarpinian J, Bucher JA, Dineen R, Goetsch A, Lazarin GA, Johansen Taber K. Arjunan A, et al. Among authors: dineen r. Prenat Diagn. 2020 Sep;40(10):1246-1257. doi: 10.1002/pd.5762. Epub 2020 Jun 16. Prenat Diagn. 2020. PMID: 32474937 Free PMC article.
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH. Pyott SM, et al. Among authors: dineen r. Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31. Hum Mol Genet. 2011. PMID: 21282188 Free PMC article.
180 results