Margraf R - Search Results

1

Experimental setup for high-resolution characterization of crystal optics for coherent X-ray beam applications.

Halavanau A, Margraf R, Robles R, MacArthur J, Qu Z, Marcus G, Wu J, Sato T, Zhu D, Takacs CJ, Arthur R, Kraynis O, Johnson B, Rabedeau T. Halavanau A, et al. Among authors: margraf r. J Appl Crystallogr. 2023 Feb 1;56(Pt 1):155-159. doi: 10.1107/S1600576722010998. eCollection 2023 Feb 1. J Appl Crystallogr. 2023. PMID: 36777134 Free PMC article.

2

Refractive Guide Switching a Regenerative Amplifier Free-Electron Laser for High Peak and Average Power Hard X Rays.

Marcus G, Halavanau A, Huang Z, Krzywinski J, MacArthur J, Margraf R, Raubenheimer T, Zhu D. Marcus G, et al. Among authors: margraf r. Phys Rev Lett. 2020 Dec 18;125(25):254801. doi: 10.1103/PhysRevLett.125.254801. Phys Rev Lett. 2020. PMID: 33416365

3

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.

Margraf RL, Alexander RZ, Fulmer ML, Miller CE, Coupal E, Mao R. Margraf RL, et al. Hum Mutat. 2022 Dec;43(12):1780-1794. doi: 10.1002/humu.24486. Epub 2022 Oct 31. Hum Mutat. 2022. PMID: 36251279

4

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia.

Jama M, Margraf RL, Yu P, Reading NS, Bayrak-Toydemir P. Jama M, et al. Among authors: margraf rl. J Mol Diagn. 2022 Aug;24(8):915-923. doi: 10.1016/j.jmoldx.2022.04.008. Epub 2022 May 17. J Mol Diagn. 2022. PMID: 35595154 Free article.

5

CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells.

Joshi HR, Hill HR, Asch J, Margraf RL, Coonrod E, Durtschi J, Zhou Q, He X, Voelkerding KV, Kumánovics A. Joshi HR, et al. Among authors: margraf rl. J Allergy Clin Immunol. 2021 Apr;147(4):1504-1507.e8. doi: 10.1016/j.jaci.2020.09.036. Epub 2020 Oct 16. J Allergy Clin Immunol. 2021. PMID: 33075407 No abstract available.

6

NF1 Somatic Mutation in Dystrophic Scoliosis.

Margraf RL, VanSant-Webb C, Mao R, Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A, Stevenson DA. Margraf RL, et al. J Mol Neurosci. 2019 May;68(1):11-18. doi: 10.1007/s12031-019-01277-0. Epub 2019 Feb 18. J Mol Neurosci. 2019. PMID: 30778836

7

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.

Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Wooderchak-Donahue WL, et al. Among authors: margraf r. J Med Genet. 2018 Dec;55(12):824-830. doi: 10.1136/jmedgenet-2018-105561. Epub 2018 Sep 22. J Med Genet. 2018. PMID: 30244195

8

Connexin-43 K63-polyubiquitylation on lysines 264 and 303 regulates gap junction internalization.

Kells-Andrews RM, Margraf RA, Fisher CG, Falk MM. Kells-Andrews RM, et al. Among authors: margraf ra. J Cell Sci. 2018 Aug 9;131(15):jcs204321. doi: 10.1242/jcs.204321. J Cell Sci. 2018. PMID: 30054380 Free PMC article.

9

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ. Margraf RL, et al. Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018. Child Neurol Open. 2018. PMID: 30046645 Free PMC article.

10

Phosphorylation regulates connexin43/ZO-1 binding and release, an important step in gap junction turnover.

Thévenin AF, Margraf RA, Fisher CG, Kells-Andrews RM, Falk MM. Thévenin AF, et al. Among authors: margraf ra. Mol Biol Cell. 2017 Dec 1;28(25):3595-3608. doi: 10.1091/mbc.E16-07-0496. Epub 2017 Oct 11. Mol Biol Cell. 2017. PMID: 29021339 Free PMC article.

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