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Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. Chanprasert S, et al. Among authors: enns gm. Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17. Mol Genet Metab. 2013. PMID: 23932787
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Among authors: enns gm. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204
Clinical whole-exome sequencing: are we there yet?
Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Among authors: enns gm. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free article.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Parikh S, et al. Among authors: enns gm. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503498 Free PMC article. Review.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Parikh S, et al. Among authors: enns gm. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Genet Med. 2017. PMID: 28749475 Free PMC article. Review.
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group; MMS Clinical Director's Work Group; Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Parikh S, et al. Among authors: enns gm. Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26. Mitochondrion. 2014. PMID: 23891656
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: enns gm. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
176 results