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Page 1
Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.
Shepherd WS, Wiese AD, Cho HE, Rork WC, Baig MU, Kostick KM, Nguyen D, Carter EM; Members of the BBDC; Murali CN, Robinson ME, Schneider SC, Lee B, Sutton VR, Storch EA. Shepherd WS, et al. Among authors: sutton vr. J Clin Psychol Med Settings. 2024 Jan 28. doi: 10.1007/s10880-023-09991-z. Online ahead of print. J Clin Psychol Med Settings. 2024. PMID: 38281305
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Among authors: sutton vr. Mol Genet Metab Rep. 2023 Oct 9;37:101013. doi: 10.1016/j.ymgmr.2023.101013. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053934 Free PMC article.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G. Jacob P, et al. Among authors: sutton vr. NPJ Genom Med. 2023 Nov 22;8(1):39. doi: 10.1038/s41525-023-00380-x. NPJ Genom Med. 2023. PMID: 37993442 Free PMC article.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. Marom R, et al. Among authors: sutton vr. PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov. PLoS Genet. 2023. PMID: 37934770 Free PMC article.
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Rahhal S, Farmer C, Thurm A, Wassif CA, Cawley NX, Perreault J, Dang Do A, Bianconi S, Hannah-Shmouni F, Guthrie W, Cubit LS, Miller JS, Sutton VR, Koeberl D, Porter FD. Rahhal S, et al. Among authors: sutton vr. Mol Genet Metab Rep. 2023 Aug 21;37:101001. doi: 10.1016/j.ymgmr.2023.101001. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662495 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
283 results