Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: vockley g. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
Talkowski ME, McClain L, Allen T, Bradford LD, Calkins M, Edwards N, Georgieva L, Go R, Gur R, Gur R, Kirov G, Chowdari K, Kwentus J, Lyons P, Mansour H, McEvoy J, O'Donovan MC, O'Jile J, Owen MJ, Santos A, Savage R, Toncheva D, Vockley G, Wood J, Devlin B, Nimgaonkar VL. Talkowski ME, et al. Among authors: vockley g. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):560-9. doi: 10.1002/ajmg.b.30862. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18937293 Free PMC article.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M; UCD Consortium; Scharschmidt BF. Lee B, et al. Genet Med. 2015 Jul;17(7):561-8. doi: 10.1038/gim.2014.148. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503497 Free PMC article.
The Role of ARF6 in Biliary Atresia.
Ningappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. Ningappa M, et al. Among authors: vockley g. PLoS One. 2015 Sep 17;10(9):e0138381. doi: 10.1371/journal.pone.0138381. eCollection 2015. PLoS One. 2015. PMID: 26379158 Free PMC article.
Host conditioning and rejection monitoring in hepatocyte transplantation in humans.
Soltys KA, Setoyama K, Tafaleng EN, Soto Gutiérrez A, Fong J, Fukumitsu K, Nishikawa T, Nagaya M, Sada R, Haberman K, Gramignoli R, Dorko K, Tahan V, Dreyzin A, Baskin K, Crowley JJ, Quader MA, Deutsch M, Ashokkumar C, Shneider BL, Squires RH, Ranganathan S, Reyes-Mugica M, Dobrowolski SF, Mazariegos G, Elango R, Stolz DB, Strom SC, Vockley G, Roy-Chowdhury J, Cascalho M, Guha C, Sindhi R, Platt JL, Fox IJ. Soltys KA, et al. Among authors: vockley g. J Hepatol. 2017 May;66(5):987-1000. doi: 10.1016/j.jhep.2016.12.017. Epub 2016 Dec 24. J Hepatol. 2017. PMID: 28027971 Free PMC article.
Elective liver transplantation for the treatment of classical maple syrup urine disease.
Strauss KA, Mazariegos GV, Sindhi R, Squires R, Finegold DN, Vockley G, Robinson DL, Hendrickson C, Virji M, Cropcho L, Puffenberger EG, McGhee W, Seward LM, Morton DH. Strauss KA, et al. Among authors: vockley g. Am J Transplant. 2006 Mar;6(3):557-64. doi: 10.1111/j.1600-6143.2005.01209.x. Am J Transplant. 2006. PMID: 16468966 Free article.
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Vockley G, Berry GT, Lamhownah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: vockley g. Mol Genet Metab. 2007 Jan 17. doi: 10.1016/j.ymgme.2006.11.011. Online ahead of print. Mol Genet Metab. 2007. PMID: 17234443
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, Mayerhofer EM, Tilstra D, Vedder T, Hunter JM, Tsang M, Gonzalez L, Vockley G, Tang S. Powis Z, et al. Among authors: vockley g. Genet Med. 2018 Nov;20(11):1468-1471. doi: 10.1038/gim.2018.11. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565416 Free article.
Methylome repatterning in a mouse model of Maternal PKU Syndrome.
Dobrowolski SF, Lyons-Weiler J, Biery A, Spridik K, Vockley G, Kranik E, Skvorak K, Sultana T. Dobrowolski SF, et al. Among authors: vockley g. Mol Genet Metab. 2014 Nov;113(3):194-9. doi: 10.1016/j.ymgme.2014.08.006. Epub 2014 Aug 23. Mol Genet Metab. 2014. PMID: 25218179
15 results