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151 results on '"Wegner, P. J."'

1. Order of magnitude increase in laser-target coupling at near-relativistic intensities using compound parabolic concentrators

Author

Williams, Gerald Jackson, Link, Anthony J., Sherlock, Mark William, Alessi, David A., Bowers, Mark W., Golick, Brad, Hamamoto, Matt, Hermann, Mark R., Kalantar, Dan, LaFortune, Kai Nicholas, Mackinnon, Andrew James, MacPhee, Andrew, Manuel, Mario J. -E., Martinez, David, Mauldin, Michael, Pelz, Lawrence J., Prantil, Matt, Quinn, Matthew, Remington, Bruce A., Sigurdsson, Ron, Wegner, Paul J., Youngblood, Kelly, and Chen, Hui

Subjects
Physics - Plasma Physics
Abstract

Achieving a high conversion efficiency into relativistic electrons is central to short-pulse laser application and fundamentally relies on creating interaction regions with intensities ${\gg}10^{18}$~W/cm$^2$. Small focal length optics are typically employed to achieve this goal; however, this solution is impractical for large kJ-class systems that are constrained by facility geometry, debris concerns, and component costs. We fielded target-mounted compound parabolic concentrators to overcome these limitations and achieved nearly an order of magnitude increase to the conversion efficiency and more than tripled electron temperature compared to flat targets. Particle-in-cell simulations demonstrate that plasma confinement within the cone and formation of turbulent laser fields that develop from cone wall reflections are responsible for the improved laser-to-target coupling. {These passive target components can be used to improve the coupling efficiency for all high-intensity short-pulse laser applications, particularly at large facilities with long focal length optics., Comment: 6 pages, 5 figures

Published
2020
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2. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Author

Kobren, Shilpa Nadimpalli, Baldridge, Dustin, Velinder, Matt, Krier, Joel B, LeBlanc, Kimberly, Esteves, Cecilia, Pusey, Barbara N, Züchner, Stephan, Blue, Elizabeth, Lee, Hane, Huang, Alden, Bastarache, Lisa, Bican, Anna, Cogan, Joy, Marwaha, Shruti, Alkelai, Anna, Murdock, David R, Liu, Pengfei, Wegner, Daniel J, Paul, Alexander J, Undiagnosed Diseases Network, Sunyaev, Shamil R, and Kohane, Isaac S

Subjects
Undiagnosed Diseases Network, Humans, Computational Biology, Genomics, Genome, Software, Genetic Testing, Workflow, Undiagnosed Diseases, Genetics, Human Genome, Genetics & Heredity, Clinical Sciences
Abstract

PurposeGenomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although the computational tools incorporated into diagnostic workflows for this task are continually evolving and improving, we nevertheless sought to investigate commonalities across sequencing processing workflows to reveal consensus and standard practice tools and highlight exploratory analyses where technical and theoretical method improvements would be most impactful.MethodsWe collected details regarding the computational approaches used by a genetic testing laboratory and 11 clinical research sites in the United States participating in the Undiagnosed Diseases Network via meetings with bioinformaticians, online survey forms, and analyses of internal protocols.ResultsWe found that tools for processing genomic sequencing data can be grouped into four distinct categories. Whereas well-established practices exist for initial variant calling and quality control steps, there is substantial divergence across sites in later stages for variant prioritization and multimodal data integration, demonstrating a diversity of approaches for solving the most mysterious undiagnosed cases.ConclusionThe largest differences across diagnostic workflows suggest that advances in structural variant detection, noncoding variant interpretation, and integration of additional biomedical data may be especially promising for solving chronically undiagnosed cases.

Published
2021

4. In memory of Leo P. Kadanoff

Author

Wegner, Franz J.

Subjects
Physics - History and Philosophy of Physics, Condensed Matter - Statistical Mechanics
Abstract

Leo Kadanoff has worked in many fields of statistical mechanics. His contributions had an enormous impact. This holds in particular for critical phenomena, where he explained Widom's homogeneity laws by means of block-spin transformations and laid the basis for Wilson's renormalization group equation. I had the pleasure to work in his group for one year. A short historically account is given., Comment: 8 pages

Published
2016
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6. Duality in generalized Ising models

Author

Wegner, Franz J.

Subjects
High Energy Physics - Lattice, Condensed Matter - Statistical Mechanics
Abstract

This paper rests to a large extend on a paper I wrote some time ago on 'Duality in generalized Ising models and phase transitions without local order parameter'. It deals with Ising models with interactions containing products of more than two spins. In contrast to the old paper I will first give examples before I come to the general statements. Of particular interest is a gauge invariant Ising model in four dimensions. It has important properties in common with models for quantum chromodynamics as developed by Ken Wilson. One phase yields an area law for the Wilson-loop yielding an interaction increasing proportional to the distance and thus corresponding to quark-confinement. The other phase yields a perimeter law allowing for a quark-gluon plasma., Comment: Contribution to the summer school 'Topological aspects of condensed matter physics' Les Houches August 2014

Published
2014

7. Electromagnetic Waves in a Model with Chern-Simons Potential

Author

Pis'mak, D. Yu., Pis'mak, Yu. M., and Wegner, F. J.

Subjects
High Energy Physics - Theory, Condensed Matter - Mesoscale and Nanoscale Physics, Condensed Matter - Materials Science, Quantum Physics
Abstract

We investigate the appearance of Chern-Simons terms in electrodynamics at the surface/interface of materials. The requirement of locality, gauge invariance and renormalizability in this model is imposed. Scattering and reflection of electromagnetic waves in three different homogeneous layers of media is determined. Snell's law is preserved. However, the transmission and reflection coefficient depend on the strength of the Chern-Simons interaction, and parallel and perpendicular components are mixed.

Published
2014
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8. Inhomogeneous Fixed Point Ensembles Revisited

Author

Wegner, Franz J.

Subjects
Condensed Matter - Disordered Systems and Neural Networks
Abstract

The density of states of disordered systems in the Wigner-Dyson classes approaches some finite non-zero value at the mobility edge, whereas the density of states in systems of the chiral and Bogolubov-de Gennes classes shows a divergent or vanishing behavior in the band centre. Such types of behavior were classified as homogeneous and inhomogeneous fixed point ensembles within a real-space renormalization group approach. For the latter ensembles the scaling law $\mu=d\nu-1$ was derived for the power laws of the density of states $\rho\propto|E|^\mu$ and of the localization length $\xi\propto|E|^{-\nu}$. This prediction from 1976 is checked against explicit results obtained meanwhile., Comment: Submitted to 'World Scientific' for the volume 'Fifty Years of Anderson Localization'. 12 pages

Published
2010
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9. Critical Behavior of a General O(n)-symmetric Model of two n-Vector Fields in D=4-2 epsilon

Author

Pis'mak, Yuri M., Weber, Alexej, and Wegner, Franz J.

Subjects
Condensed Matter - Statistical Mechanics
Abstract

The critical behaviour of the O(n)-symmetric model with two n-vector fields is studied within the field-theoretical renormalization group approach in a D=4-2 epsilon expansion. Depending on the coupling constants the beta-functions, fixed points and critical exponents are calculated up to the one- and two-loop order, resp. (eta in two- and three-loop order). Continuous lines of fixed points and O(n)*O(2) invariant discrete solutions were found. Apart from already known fixed points two new ones were found. One agrees in one-loop order with a known fixed point, but differs from it in two-loop order., Comment: 23 pages

Published
2008
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10. Floating Bodies of Equilibrium in 2D, the Tire Track Problem and Electrons in a Parabolic Magnetic Field

Author

Wegner, Franz J.

Subjects
Physics - Classical Physics, Physics - General Physics
Abstract

Explicit solutions of the two-dimensional floating body problem (bodies that can float in all positions) for relative density different from 1/2 and of the tire track problem (tire tracks of a bicycle, which do not allow to determine, which way the bicycle went) are given, which differ from circles. Starting point is the differential equation given by the author in archive physics/0205059 and Studies in Appl. Math. 111 (2003) 167-183. The curves are also trajectories of charges in a perpendicular magnetic field., Comment: 67 pages including more than 100 eps-figures, gzipped tar file, misprints corrected, text improved, animations in http://www.tphys.uni-heidelberg.de/~wegner/Fl2mvs/Movies.html

Published
2007

12. Orthogonality constraints and entropy in the SO(5)-Theory of HighT_c-Superconductivity

Author

Wegner, Franz J.

Subjects
Condensed Matter - Superconductivity, Condensed Matter - Strongly Correlated Electrons
Abstract

S.C. Zhang has put forward the idea that high-temperature-superconductors can be described in the framework of an SO(5)-symmetric theory in which the three components of the antiferromagnetic order-parameter and the two components of the two-particle condensate form a five-component order-parameter with SO(5) symmetry. Interactions small in comparison to this strong interaction introduce anisotropies into the SO(5)-space and determine whether it is favorable for the system to be superconducting or antiferromagnetic. Here the view is expressed that Zhang's derivation of the effective interaction V_{eff} based on his Hamiltonian H_a is not correct. However, the orthogonality constraints introduced several pages after this 'derivation' give the key to an effective interaction very similar to that given by Zhang. It is shown that the orthogonality constraints are not rigorous constraints, but they maximize the entropy at finite temperature. If the interaction drives the ground-state to the largest possible eigenvalues of the operators under consideration (antiferromagnetic ordering, superconducting condensate, etc.), then the orthogonality constraints are obeyed by the ground-state, too., Comment: 10 pages, no figures

Published
1999
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13. Light-cone Hamiltonian flow for positronium

Author

Gubankova, Elena L., Pauli, Hans-Christian, Wegner, Franz J., and Papp, Gabor

Subjects
High Energy Physics - Theory
Abstract

The technique of Hamiltonian flow equations is applied to the canonical Hamiltonian of quantum electrodynamics in the front form and 3+1 dimensions. The aim is to generate a bound state equation in a quantum field theory, particularly to derive an effective Hamiltonian which is practically solvable in Fock-spaces with reduced particle number. The effective Hamiltonian, obtained as a solution of flow eqautions to the second order, is solved numerically for positronium spectrum. The impact of different similarity functions is explicitly studied. The approach discussed can ultimately be used to address to the same problem for quantum chromodynamics., Comment: 43 pages, LaTeX2e, 5 Figures, Submitted to Phys.Rev.D

Published
1998

14. Low temperature expansion of the gonihedric Ising model

Author

Pietig, R. and Wegner, F. J.

Subjects
High Energy Physics - Lattice, Condensed Matter - Statistical Mechanics
Abstract

We investigate a model of closed $(d-1)$-dimensional soft-self-avoiding random surfaces on a $d$-dimensional cubic lattice. The energy of a surface configuration is given by $E=J(n_{2}+4k n_{4})$, where $n_{2}$ is the number of edges, where two plaquettes meet at a right angle and $n_{4}$ is the number of edges, where 4 plaquettes meet. This model can be represented as a $\Z_{2}$-spin system with ferromagnetic nearest-neighbour-, antiferromagnetic next-nearest-neighbour- and plaquette-interaction. It corresponds to a special case of a general class of spin systems introduced by Wegner and Savvidy. Since there is no term proportional to the surface area, the bare surface tension of the model vanishes, in contrast to the ordinary Ising model. By a suitable adaption of Peierls argument, we prove the existence of infinitely many ordered low temperature phases for the case $k=0$. A low temperature expansion of the free energy in 3 dimensions up to order $x^{38}$ ($x={e}^{-\beta J}$) shows, that for $k>0$ only the ferromagnetic low temperature phases remain stable. An analysis of low temperature expansions up to order $x^{44}$ for the magnetization, susceptibility and specific heat in 3 dimensions yields critical exponents, which are in agreement with previous results., Comment: 27 pages, Postscript figures included

Published
1997
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15. Phase Transition in Lattice Surface Systems with Gonihedric Action

Author

Pietig, Rainer and Wegner, Franz J.

Subjects
High Energy Physics - Lattice, High Energy Physics - Theory
Abstract

We prove the existence of an ordered low temperature phase in a model of soft-self-avoiding closed random surfaces on a cubic lattice by a suitable extension of Peierls contour method. The statistical weight of each surface configuration depends only on the mean extrinsic curvature and on an interaction term arising when two surfaces touch each other along some contour. The model was introduced by F.J. Wegner and G.K. Savvidy as a lattice version of the gonihedric string, which is an action for triangulated random surfaces., Comment: 17 pages, Postscript figures included

Published
1996
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16. GEOMETRICAL STRING and DUAL SPIN SYSTEMS

Author

Savvidy, G. K., Savvidy, K. G., and Wegner, F. J.

Subjects
High Energy Physics - Theory
Abstract

We are able to perform the duality transformation of the spin system which was found before as a lattice realization of the string with linear action. In four and higher dimensions this spin system can be described in terms of a two-plaquette gauge Hamiltonian. The duality transformation is constructed in geometrical and algebraic language. The dual Hamiltonian represents a new type of spin system with local gauge invariance. At each vertex $\xi$ there are $d(d-1)/2$ Ising spins $\Lambda_{\mu,\nu}= \Lambda_{\nu,\mu}$, $\mu \neq \nu = 1,..,d$ and one Ising spin $\Gamma$ on every link $(\xi,\xi +e_{\mu})$. For the frozen spin $\Gamma \equiv 1$ the dual Hamiltonian factorizes into $d(d-1)/2$ two-dimensional Ising ferromagnets and into antiferromagnets in the case $\Gamma \equiv -1$. For fluctuating $\Gamma$ it is a sort of spin glass system with local gauge invariance. The generalization to $p$-branes is given., Comment: 16 pages,Latex

Published
1995
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17. Geometrical String and Spin Systems

Author

Savvidy, G. K. and Wegner, F. J.

Subjects
High Energy Physics - Theory
Abstract

We formulate a new geometrical string on the euclidean lattice. It is possible to find such spin systems with local interaction which reproduce the same surface dynamics.In the three-dimensional case this spin system is a usual Ising ferromagnet with additional diagonal antiferromagnetic interaction and with specially adjusted coupling constants. In the four-dimensional case the spin system coincides with the gauge Ising system with an additional double-plaquette interaction and also with specially tuned coupling constants. We extend this construction to random walks and random hypersurfaces (membrane and p-branes) of high dimensionality. We compare these spin systems with the eight-vertex model and BNNNI models., Comment: 10 pages, Latex,Crete-TH-5-July-1993

Published
1993
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21. Demonstration of high-energy 2[omega] (526.5 nm) operation on the National Ignition Facility Laser System

Author

Heestand, G. M., Haynam, C. A., Wegner, P. J., Bowers, M. W., Dixit, S. N., Erbert, G. V., Henesian, M. A., Hermann, M. R., Jancaitis, K. S., Knittel, K., Kohut, T., Lindl, J. D., Manes, K. R., Marshall, C. D., Mehta, N. C., Menapace, J., Moses, E., Murray, J. R., Nostrand, M. C., Orth, C. D., Patterson, R., Sacks, R. A., Saunders, R., Shaw, M. J., Spaeth, M., Sutton, S. B., Williams, W. H., Widmayer, C. C., White, R. K., Whitman, P. K., Yang, S. T., and Van Wonterghem, B. M.

Subjects
Laser beams -- Properties, Frequency converters -- Research, Astronomy, Physics
Abstract

A single beamline of the National Ignition Facility (NIF) has been operated at a wavelength of 526.5 nm (2[omega]) by frequency converting the fundamental 1053 nm (l[omega]) wavelength with an 18.2 mm thick type-I potassium dihydrogen phosphate (KDP) second-harmonic generator (SHG) crystal. Second-harmonic energies of up to 17.9 kJ were measured at the final optics focal plane with a conversion efficiency of 82%. For a similarly configured 192-beam NIF, this scales to a total 2w energy of 3.4 MJ full NIF equivalent (FNE). OCIS codes: 140.0140, 140.3070, 140.3515, 140.3530.

Published
2008

22. The first target experiments on the National Ignition Facility

Author

Landen, O. L., Glenzer, S. H., Froula, D. H., Dewald, E. L., Suter, L. J., Schneider, M. B., Hinkel, D. E., Fernandez, J. C., Kline, J. L., Goldman, S. R., Braun, D. G., Celliers, P. M., Moon, S. J., Robey, H. S., Lanier, N. E., Glendinning, S. G., Blue, B. E., Wilde, B. H., Jones, O. S., Schein, J., Divol, L., Kalantar, D. H., Campbell, K. M., Holder, J. P., McDonald, J. W., Niemann, C., Mackinnon, A. J., Collins, G. W., Bradley, D. K., Eggert, J. H., Hicks, D. G., Gregori, G., Kirkwood, R. K., Young, B. K., Foster, J. M., Hansen, J. F., Perry, T. S., Munro, D. H., Baldis, H. A., Grim, G. P., Heeter, R. F., Hegelich, M. B., Montgomery, D. S., Rochau, G. A., Olson, R. E., Turner, R. E., Workman, J. B., Berger, R. L., Cohen, B. I., Kruer, W. L., Langdon, A. B., Langer, S. H., Meezan, N. B., Rose, H. A., Still, C. H., Williams, E. A., Dodd, E. S., Edwards, M. J., Monteil, M.-C., Stevenson, R. M., Thomas, B. R., Coker, R. F., Magelssen, G. R., Rosen, P. A., Stry, P. E., Woods, D., Weber, S. V., Young, P. E., Alvarez, S., Armstrong, G., Bahr, R., Bourgade, J.-L., Bower, D., Celeste, J., Chrisp, M., Compton, S., Cox, J., Constantin, C., Costa, R., Duncan, J., Ellis, A., Emig, J., Gautier, C., Greenwood, A., Griffith, R., Holdner, F., Holtmeier, G., Hargrove, D., James, T., Kamperschroer, J., Kimbrough, J., Landon, M., Lee, F. D., Malone, R., May, M., Montelongo, S., Moody, J., Ng, E., Nikitin, A., Pellinen, D., Piston, K., Poole, M., Rekow, V., Rhodes, M., Shepherd, R., Shiromizu, S., Voloshin, D., Warrick, A., Watts, P., Weber, F., Young, P., Arnold, P., Atherton, L., Bardsley, G., Bonanno, R., Borger, T., Bowers, M., Bryant, R., Buckman, S., Burkhart, S., Cooper, F., Dixit, S. N., Erbert, G., Eder, D. C., Ehrlich, R. E., Felker, B., Fornes, J., Frieders, G., Gardner, S., Gates, C., Gonzalez, M., Grace, S., Hall, T., Haynam, C. A., Heestand, G., Henesian, M. A., Hermann, M., Hermes, G., Huber, S., Jancaitis, K., Johnson, S., Kauffman, B., Kelleher, T., Kohut, T., Koniges, A. E., Labiak, T., Latray, D., Lee, A., Lund, D., Mahavandi, S., Manes, K. R., Marshall, C., McBride, J., McCarville, T., McGrew, L., Menapace, J., Mertens, E., Murray, J., Neumann, J., Newton, M., Opsahl, P., Padilla, E., Parham, T., Parrish, G., Petty, C., Polk, M., Powell, C., Reinbachs, I., Rinnert, R., Riordan, B., Ross, G., Robert, V., Tobin, M., Sailors, S., Saunders, R., Schmitt, M., Shaw, M., Singh, M., Spaeth, M., Stephens, A., Tietbohl, G., Tuck, J., Van Wonterghem, B. M., Vidal, R., Wegner, P. J., Whitman, P., Williams, K., Winward, K., Work, K., Wallace, R., Nobile, A., Bono, M., Day, B., Elliott, J., Hatch, D., Louis, H., Manzenares, R., O'Brien, D., Papin, P., Pierce, T., Rivera, G., Ruppe, J., Sandoval, D., Schmidt, D., Valdez, L., Zapata, K., MacGowan, B. J., Eckart, M. J., Hsing, W. W., Springer, P. T., Hammel, B. A., Moses, E. I., and Miller, G. H.

Published
2007
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26. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial

Author

Krantz, Ian D., Medne, Livija, Weatherly, Jamila M., Wild, K. Taylor, Biswas, Sawona, Devkota, Batsal, Hartman, Tiffiney, Brunelli, Luca, Fishler, Kristen P., Abdul-Rahman, Omar, Euteneuer, Joshua C., Hoover, Denise, Dimmock, David, Cleary, John, Farnaes, Lauge, Knight, Jason, Schwarz, Adam J., Vargas-Shiraishi, Ofelia M., Wigby, Kristin, Zadeh, Neda, Shinawi, Marwan, Wambach, Jennifer A., Baldridge, Dustin, Cole, F. Sessions, Wegner, Daniel J., Urraca, Nora, Holtrop, Shannon, Mostafavi, Roya, Mroczkowski, Henry J., Pivnick, Eniko K., Ward, Jewell C., Talati, Ajay, Brown, Chester W., Belmont, John W., Ortega, Julia L., Robinson, Keisha D., Brocklehurst, W. Tyler, Perry, Denise L., Ajay, Subramanian S., Hagelstrom, R. Tanner, Bennett, Maren, Rajan, Vani, and Taft, Ryan J.

Abstract

IMPORTANCE: Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management. OBJECTIVE: To determine the effect of WGS on clinical management in a racially and ethnically diverse and geographically distributed population of acutely ill infants in the US. DESIGN, SETTING, AND PARTICIPANTS: This randomized, time-delayed clinical trial enrolled participants from September 11, 2017, to April 30, 2019, with an observation period extending to July 2, 2019. The study was conducted at 5 US academic medical centers and affiliated children’s hospitals. Participants included infants aged between 0 and 120 days who were admitted to an intensive care unit with a suspected genetic disease. Data were analyzed from January 14 to August 20, 2020. INTERVENTIONS: Patients were randomized to receive clinical WGS results 15 days (early) or 60 days (delayed) after enrollment, with the observation period extending to 90 days. Usual care was continued throughout the study. MAIN OUTCOMES AND MEASURES: The main outcome was the difference in the proportion of infants in the early and delayed groups who received a change of management (COM) 60 days after enrollment. Additional outcome measures included WGS diagnostic efficacy, within-group COM at 90 days, length of hospital stay, and mortality. RESULTS: A total of 354 infants were randomized to the early (n = 176) or delayed (n = 178) arms. The mean participant age was 15 days (IQR, 7-32 days); 201 participants (56.8%) were boys; 19 (5.4%) were Asian; 47 (13.3%) were Black; 250 (70.6%) were White; and 38 (10.7%) were of other race. At 60 days, twice as many infants in the early group vs the delayed group received a COM (34 of 161 [21.1%; 95% CI, 15.1%-28.2%] vs 17 of 165 [10.3%; 95% CI, 6.1%-16.0%]; P = .009; odds ratio, 2.3; 95% CI, 1.22-4.32) and a molecular diagnosis (55 of 176 [31.0%; 95% CI, 24.5%-38.7%] vs 27 of 178 [15.0%; 95% CI, 10.2%-21.3%]; P < .001). At 90 days, the delayed group showed a doubling of COM (to 45 of 161 [28.0%; 95% CI, 21.2%-35.6%]) and diagnostic efficacy (to 56 of 178 [31.0%; 95% CI, 24.7%-38.8%]). The most frequent COMs across the observation window were subspecialty referrals (39 of 354; 11%), surgery or other invasive procedures (17 of 354; 4%), condition-specific medications (9 of 354; 2%), or other supportive alterations in medication (12 of 354; 3%). No differences in length of stay or survival were observed. CONCLUSIONS AND RELEVANCE: In this randomized clinical trial, for acutely ill infants in an intensive care unit, introduction of WGS was associated with a significant increase in focused clinical management compared with usual care. Access to first-line WGS may reduce health care disparities by enabling diagnostic equity. These data support WGS adoption and implementation in this population. TRAIL REGISTRATION: ClinicalTrials.gov Identifier: NCT03290469

Published
2021
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27. Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Wangler, Michael F., Yamamoto, Shinya, Cole, F. Sessions, Rios, Jonathan, and Bellen, Hugo J.

Abstract

We identified 2 individuals with de novo variants in SREBF2that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2variants on SREBP pathway activation.

Published
2024
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28. Novel exon-skipping variant disrupting the basic domain of HCFC1causes intellectual disability without metabolic abnormalities in both male and female patients

Author

Wongkittichote, Parith, Wegner, Daniel J., and Shinawi, Marwan S.

Abstract

HCFC1, a global transcriptional regulator, has been shown to associate with MMACHCexpression. Pathogenic variants in HCFC1cause X-linked combined methylmalonic acidemia and hyperhomocysteinemia, CblX type (MIM# 309541). Recent studies showed that certain variants in HCFC1are associated with X-linked intellectual disability with mild or absent metabolic abnormalities. Here, we report five subjects (three males, two females) from the same family with a novel predicted loss of function HCFC1variant. All five patients exhibit developmental delay or intellectual disability/learning difficulty and some dysmorphic features; findings were milder in the female as compared to male subjects. Biochemical studies in all patients did not show methylmalonic acidemia or hyperhomocysteinemia but revealed elevated vitamin B12 levels. Trio exome sequencing of the proband and his parents revealed a maternally inherited novel variant in HCFC1designated as c.1781_1803 + 3del26insCA (NM_005334). Targeted testing confirmed the presence of the same variant in two half-siblings and maternal great uncle. In silico analysis showed that the variant is expected to reduce the quality of the splice donor site in intron 10 and causes abnormal splicing. Sequencing of proband’s cDNA revealed exon 10 skipping. Further molecular studies in the two manifesting females revealed moderate and high skewing of X inactivation. Our results support previous observation that HCFC1variants located outside the Kelch domain exhibit dissociation of the clinical and biochemical phenotype and cause milder or no metabolic changes. We also show that this novel variant can be associated with a phenotype in females, although with milder severity, but further studies are needed to understand the role of skewed X inactivation among females in this rare disorder. Our work expands the genotypes and phenotypes associated with HCFC1-related disorder.

Published
2021
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29. Producing KDP and DKDP crystals for the NIF laser

Author

Atherton, L J, primary, Burnham, A K, additional, Combs, R C, additional, Couture, S A, additional, De Yoreo, J J, additional, Hawley-Fedder, R A, additional, Montesant, R C, additional, Robey, H F, additional, Runkel, M, additional, Staggs, M, additional, Wegner, P J, additional, Yan, M, additional, and Zaitseva, N P, additional

Published
1999
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31. Spatio-temporal focal spot characterization and modeling of the NIF ARC kilojoule picosecond laser

Author

Williams, Wade H., Crane, John K., Alessi, David A., Boley, Charles D., Bowers, Mark W., Conder, Alan D., Di Nicola, Jean-Michel G., Di Nicola, Pascale, Haefner, Constantin, Halpin, John M., Hamamoto, Mathew Y., Heebner, John E., Hermann, Mark R., Herriot, Sandrine I., Homoelle, Doug C., Kalantar, Daniel H., Lanier, Thomas E., LaFortune, Kai N., Lawson, Janice K., Lowe-Webb, Roger R., Morrissey, Francis X., Nguyen, Hoang, Orth, Charles D., Pelz, Lawrence J., Prantil, Matthew A., Rushford, Michael C., Sacks, Richard A., Salmon, J. Thaddeus, Seppala, Lynn G., Shaw, Michael J., Sigurdsson, Ronald J., Wegner, Paul J., Widmayer, C. C., Yang, Steven T., and Zobrist, Thomas L.

Abstract

The advanced radiographic capability (ARC) laser system, part of the National Ignition Facility (NIF) at Lawrence Livermore National Laboratory, is a short-pulse laser capability integrated into the NIF. The ARC is designed to provide adjustable pulse lengths of ∼1−38ps in four independent beamlets, each with energies up to 1 kJ (depending on pulse duration). A detailed model of the ARC lasers has been developed that predicts the time- and space-resolved focal spots on target for each shot. Measurements made to characterize static and dynamic wavefront characteristics of the ARC are important inputs to the code. Modeling has been validated with measurements of the time-integrated focal spot at the target chamber center (TCC) at low power, and the space-integrated pulse duration at high power, using currently available diagnostics. These simulations indicate that each of the four ARC beamlets achieves a peak intensity on target of up to a few 10^18W/cm^2.

Published
2021

35. Injection laser system for Advanced Radiographic Capability using chirped pulse amplification on the National Ignition Facility

Author

Heebner, John E., Acree Jr., Robert L., Alessi, David A., Barnes, Adrian I., Bowers, Mark W., Browning, Don F., Budge, Tracy S., Burns, Scott, Chang, Leyen S., Christensen, Kim S., Crane, John K., Dailey, Michael, Erbert, Gaylen V., Fischer, Matt, Flegel, Michael, Golick, Brad P., Halpin, John M., Hamamoto, Matt Y., Hermann, Mark R., Hernandez, Vincent J., Honig, John, Jarboe, Jeffrey A., Kalantar, Daniel H., Kanz, Vernon K., Knittel, Kenn M., Lusk, Jeremy R., Molander, William A., Pacheu, Valier R., Paul, Mitanu, Pelz, Larry J., Prantil, Matthew A., Rushford, Michael C., Schenkel, Nick, Sigurdsson, Ron J., Spinka, Thomas M., Taranowski, Michael G., Wegner, Paul J., Wilhelmsen, Karl C., Nan Wong, J., and Yang, Steven T.

Abstract

We report on the design, performance, and qualification of the injection laser system designed to deliver joule-level chirped pulse beamlets arranged in dual rectangular beam formats into two main laser amplifier beamlines of the National Ignition Facility. The system is designed to meet the requirements of the Advanced Radiographic Capability upgrade with features that deliver performance, adjustability, and long-term reliability.

Published
2019

36. Damage Mechanisms Avoided or Managed for NIF Large Optics

Author

Manes, K. R., primary, Spaeth, M. L., additional, Adams, J. J., additional, Bowers, M. W., additional, Bude, J. D., additional, Carr, C. W., additional, Conder, A. D., additional, Cross, D. A., additional, Demos, S. G., additional, Nicola, J. M. G. Di, additional, Dixit, S. N., additional, Feigenbaum, E., additional, Finucane, R. G., additional, Guss, G. M., additional, Henesian, M. A., additional, Honig, J., additional, Kalantar, D. H., additional, Kegelmeyer, L. M., additional, Liao, Z. M., additional, MacGowan, B. J., additional, Matthews, M. J., additional, McCandless, K. P., additional, Mehta, N. C., additional, Miller, P. E., additional, Negres, R. A., additional, Norton, M. A., additional, Nostrand, M. C., additional, Orth, C. D., additional, Sacks, R. A., additional, Shaw, M. J., additional, Siegel, L. R., additional, Stolz, C. J., additional, Suratwala, T. I., additional, Trenholme, J. B., additional, Wegner, P. J., additional, Whitman, P. K., additional, Widmayer, C. C., additional, and Yang, S. T., additional

Published
2016
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37. Overview: Development of the National Ignition Facility and the Transition to a User Facility for the Ignition Campaign and High Energy Density Scientific Research

Author

Moses, E. I., primary, Lindl, J. D., additional, Spaeth, M. L., additional, Patterson, R. W., additional, Sawicki, R. H., additional, Atherton, L. J., additional, Baisden, P. A., additional, Lagin, L. J., additional, Larson, D. W., additional, MacGowan, B. J., additional, Miller, G. H., additional, Rardin, D. C., additional, Roberts, V. S., additional, Wonterghem, B. M. Van, additional, and Wegner, P. J., additional

Published
2016
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38. Large Optics for the National Ignition Facility

Author

Baisden, P. A., primary, Atherton, L. J., additional, Hawley, R. A., additional, Land, T. A., additional, Menapace, J. A., additional, Miller, P. E., additional, Runkel, M. J., additional, Spaeth, M. L., additional, Stolz, C. J., additional, Suratwala, T. I., additional, Wegner, P. J., additional, and Wong, L. L., additional

Published
2016
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39. Description of the NIF Laser

Author

Spaeth, M. L., primary, Manes, K. R., additional, Kalantar, D. H., additional, Miller, P. E., additional, Heebner, J. E., additional, Bliss, E. S., additional, Spec, D. R., additional, Parham, T. G., additional, Whitman, P. K., additional, Wegner, P. J., additional, Baisden, P. A., additional, Menapace, J. A., additional, Bowers, M. W., additional, Cohen, S. J., additional, Suratwala, T. I., additional, Di Nicola, J. M., additional, Newton, M. A., additional, Adams, J. J., additional, Trenholme, J. B., additional, Finucane, R. G., additional, Bonanno, R. E., additional, Rardin, D. C., additional, Arnold, P. A., additional, Dixit, S. N., additional, Erbert, G. V., additional, Erlandson, A. C., additional, Fair, J. E., additional, Feigenbaum, E., additional, Gourdin, W. H., additional, Hawley, R. A., additional, Honig, J., additional, House, R. K., additional, Jancaitis, K. S., additional, LaFortune, K. N., additional, Larson, D. W., additional, Le Galloudec, B. J., additional, Lindl, J. D., additional, MacGowan, B. J., additional, Marshall, C. D., additional, McCandless, K. P., additional, McCracken, R. W., additional, Montesanti, R. C., additional, Moses, E. I., additional, Nostrand, M. C., additional, Pryatel, J. A., additional, Roberts, V. S., additional, Rodriguez, S. B., additional, Rowe, A. W., additional, Sacks, R. A., additional, Salmon, J. T., additional, Shaw, M. J., additional, Sommer, S., additional, Stolz, C. J., additional, Tietbohl, G. L., additional, Widmayer, C. C., additional, and Zacharias, R., additional

Published
2016
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40. Optics Recycle Loop Strategy for NIF Operations above UV Laser-Induced Damage Threshold

Author

Spaeth, M. L., primary, Wegner, P. J., additional, Suratwala, T. I., additional, Nostrand, M. C., additional, Bude, J. D., additional, Conder, A. D., additional, Folta, J. A., additional, Heebner, J. E., additional, Kegelmeyer, L. M., additional, MacGowan, B. J., additional, Mason, D. C., additional, Matthews, M. J., additional, and Whitman, P. K., additional

Published
2016
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41. The commissioning of the advanced radiographic capability laser system: experimental and modeling results at the main laser output

Author

Di Nicola, J. M., additional, Yang, S. T., additional, Boley, C. D., additional, Crane, J. K., additional, Heebner, J. E., additional, Spinka, T. M., additional, Arnold, P., additional, Barty, C. P. J., additional, Bowers, M. W., additional, Budge, T. S., additional, Christensen, K., additional, Dawson, J. W., additional, Erbert, G., additional, Feigenbaum, E., additional, Guss, G., additional, Haefner, C., additional, Hermann, M. R., additional, Homoelle, D., additional, Jarboe, J. A., additional, Lawson, J. K., additional, Lowe-Webb, R., additional, McCandless, K., additional, McHale, B., additional, Pelz, L. J., additional, Pham, P. P., additional, Prantil, M. A., additional, Rehak, M. L., additional, Rever, M. A., additional, Rushford, M. C., additional, Sacks, R. A., additional, Shaw, M., additional, Smauley, D., additional, Smith, L. K., additional, Speck, R., additional, Tietbohl, G., additional, Wegner, P. J., additional, and Widmayer, C., additional

Published
2015
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42. Erratum: “Review of the National Ignition Campaign 2009-2012” [Phys. Plasmas 21, 020501 (2014)]

Author

Lindl, J. D., primary, Landen, O. L., additional, Edwards, J., additional, Moses, E. I., additional, Adams, J., additional, Amendt, P. A., additional, Antipa, N., additional, Arnold, P. A., additional, Atherton, L. J., additional, Azevedo, S., additional, Barker, D., additional, Barrios, M. A., additional, Bass, I., additional, Baxamusa, S. H., additional, Beeler, R., additional, Beeman, B. V., additional, Bell, P. M., additional, Benedetti, L. R., additional, Bernstein, L., additional, Berzak Hopkins, L., additional, Bhandarkar, S. D., additional, Biesiada, T., additional, Bionta, R. M., additional, Bleuel, D. L., additional, Bond, E. J., additional, Borden, M., additional, Bowers, M. W., additional, Bradley, D. K., additional, Browning, D., additional, Brunton, G. K., additional, Bude, J., additional, Burkhart, S. C., additional, Burr, R. F., additional, Butlin, B., additional, Caggiano, J. A., additional, Callahan, D. A., additional, Carpenter, A. C., additional, Carr, C. W., additional, Casey, D. T., additional, Castro, C., additional, Celeste, J., additional, Celliers, P. M., additional, Cerjan, C. J., additional, Chang, J., additional, Chiarappa-Zucca, M., additional, Choate, C., additional, Clancy, T. J., additional, Clark, D. S., additional, Cohen, S. J., additional, Collins, G. W., additional, Conder, A., additional, Cox, J. R., additional, Datte, P. S., additional, Deis, G. A., additional, Dewald, E. L., additional, Di Nicola, P., additional, Di Nicola, J. M., additional, Divol, L., additional, Dixit, S. N., additional, Döppner, T., additional, Draggoo, V., additional, Drury, O., additional, Dylla-Spears, R., additional, Dzenitis, E. G., additional, Dzenitis, J. M., additional, Eckart, M. J., additional, Eder, D. C., additional, Eggert, J. H., additional, Ehrlich, R. B., additional, Erbert, G. V., additional, Fair, J., additional, Farley, D. R., additional, Fedorov, M., additional, Felker, B., additional, Finucane, R., additional, Fisher, A., additional, Fittinghoff, D. N., additional, Folta, J., additional, Fortner, R. J., additional, Frazier, T., additional, Frieders, G., additional, Frieders, S., additional, Friedrich, S., additional, Fry, J., additional, Gaylord, J., additional, Glenn, S. M., additional, Glenzer, S. H., additional, Golick, B., additional, Gururangan, G., additional, Guss, G., additional, Haan, S. W., additional, Haid, B. J., additional, Hammel, B., additional, Hamza, A. V., additional, Hartouni, E. P., additional, Hatarik, R., additional, Hatch, B. W., additional, Hatchett, S. P., additional, Hawley, R., additional, Haynam, C., additional, Heebner, J., additional, Heestand, G., additional, Hermann, M. R., additional, Hernandez, V. J., additional, Hicks, D. G., additional, Hinkel, D. E., additional, Ho, D. D., additional, Holder, J. P., additional, Holunga, D., additional, Honig, J., additional, Horner, J., additional, House, R. K., additional, Hutton, M., additional, Izumi, N., additional, Jackson, M. C., additional, Jancaitis, K. S., additional, Jedlovec, D. R., additional, Johnson, M. A., additional, Jones, O. S., additional, Kalantar, D. H., additional, Kauffman, R. L., additional, Kegelmeyer, L., additional, Kerbel, G., additional, Key, M., additional, Khan, S. F., additional, Kimbrough, J. R., additional, Kirkwood, R., additional, Klingman, J. J., additional, Koch, J. A., additional, Kohut, T. R., additional, Koning, J. M., additional, Knittel, K. M., additional, Kozioziemski, B. J., additional, Krauter, G. W., additional, Krauter, K., additional, Kritcher, A., additional, Kroll, J., additional, Kruer, W. L., additional, LaCaille, G., additional, LaFortune, K. N., additional, Lagin, L. J., additional, Land, T. A., additional, Langdon, A. B., additional, Langer, S. H., additional, Larson, D. W., additional, Latray, D. A., additional, Laurence, T., additional, LePape, S., additional, Lerche, R. A., additional, Liao, Z., additional, Liebman, J., additional, London, R. A., additional, Lowe-Webb, R. R., additional, Ma, T., additional, MacGowan, B. J., additional, MacKinnon, A. J., additional, MacPhee, A. G., additional, Malsbury, T. N., additional, Manes, K., additional, Manuel, A. M., additional, Mapoles, E. R., additional, Marinak, M. M., additional, Marshall, C. D., additional, Mason, D., additional, Masters, N., additional, Mathisen, D. G., additional, Matthews, I., additional, McCarville, T., additional, McNaney, J. M., additional, Meeker, D. J., additional, Meezan, N. B., additional, Menapace, J., additional, Michel, P., additional, Miller, P. E., additional, Milovich, J. L., additional, Mintz, M., additional, Montesanti, R., additional, Monticelli, M., additional, Moody, J. D., additional, Moran, M. J., additional, Moreno, J. C., additional, Munro, D. H., additional, Negres, R. A., additional, Nelson, J. R., additional, Norton, M., additional, Nostrand, M., additional, O'Brien, M., additional, Opachich, Y. P., additional, Orth, C., additional, Pak, A. E., additional, Palma, E. S., additional, Palmer, J. N. E., additional, Parham, T. G., additional, Park, H.-S., additional, Patel, P. K., additional, Patterson, R. W., additional, Peterson, J. E., additional, Peterson, J. L., additional, Phillips, T., additional, Prasad, R., additional, Primdahl, K., additional, Prisbrey, S. T., additional, Qiu, S. R., additional, Ralph, J. E., additional, Raman, K. S., additional, Ravizza, F., additional, Raymond, B., additional, Remington, B. A., additional, Rever, M. A., additional, Reynolds, J., additional, Richardson, M. J., additional, Riddle, A. C., additional, Rittmann, B., additional, Rosen, M. D., additional, Ross, J. S., additional, Rygg, J. R., additional, Sacks, R. A., additional, Salmon, J. T., additional, Salmonson, J. D., additional, Sater, J. D., additional, Saunders, R. L., additional, Sawicki, R., additional, Schaffers, K., additional, Schneider, D. H., additional, Schneider, M. B., additional, Scott, H. A., additional, Sepke, S. M., additional, Seugling, R., additional, Shaughnessy, D. A., additional, Shaw, M. J., additional, Shelton, R., additional, Shen, N., additional, Shingleton, N., additional, Simanovskaia, N., additional, Smalyuk, V., additional, Smauley, D. A., additional, Spaeth, M., additional, Spears, B. K., additional, Speck, D. R., additional, Spinka, T. M., additional, Springer, P. T., additional, Stadermann, M., additional, Stoeffl, W., additional, Stolken, J., additional, Stolz, C., additional, Storm, E., additional, Strozzi, D. J., additional, Suratwala, T., additional, Suter, L. J., additional, Taylor, J. S., additional, Thomas, C. A., additional, Tietbohl, G. L., additional, Tommasini, R., additional, Trummer, D., additional, VanWonterghem, B., additional, Von Rotz, R., additional, Wallace, R. J., additional, Walters, C. F., additional, Wang, A., additional, Warrick, A. L., additional, Weaver, S., additional, Weber, S. V., additional, Wegner, P. J., additional, Widmann, K., additional, Widmayer, C. C., additional, Williams, E. A., additional, Whitman, P. K., additional, Wilhelmsen, K., additional, Witte, M., additional, Wong, L., additional, Wood, R. D., additional, Yang, S., additional, Yeamans, C., additional, Young, B. K., additional, Yoxall, B., additional, Zacharias, R. A., additional, Zimmerman, G. B., additional, Batha, S., additional, Danly, C. R., additional, Fatherley, V., additional, Grim, G. P., additional, Guler, N., additional, Herrmann, H. W., additional, Kim, Y., additional, Kline, J. L., additional, Kyrala, G. A., additional, Leeper, R. J., additional, Martinson, D., additional, Merrill, F. E., additional, Olson, R. E., additional, Wilde, C., additional, Wilke, M. D., additional, Wilson, D. C., additional, Chandler, G. A., additional, Cooper, G. W., additional, Hahn, K. D., additional, Peterson, K. J., additional, Ruiz, C. L., additional, Chen, K. C., additional, Dorsano, N., additional, Emerich, M., additional, Gibson, C., additional, Hoover, D., additional, Hoppe, M., additional, Kilkenny, J. D., additional, Moreno, K., additional, Wilkens, H., additional, Woods, S., additional, Frenje, J. A., additional, Johnson, M. G., additional, Li, C. K., additional, Petrasso, R. D., additional, Rinderknecht, H., additional, Rosenberg, M., additional, Séguin, F. H., additional, Zylstra, A., additional, Garbett, W., additional, Graham, P., additional, Guymer, T., additional, Moore, A. S., additional, Bourgade, J.-L., additional, Gauthier, P., additional, Leidinger, J.-P., additional, Masse, L., additional, Philippe, F., additional, and Scott, R. H. H., additional

Published
2014
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44. Phenolic Content and Profile Alterations during Seedling Growth in Supina Bluegrass and Bermudagrass

Author

Pedersen, Matthew A., Wegner, Casey J., Gaussoin, Roch E., Zbasnik, Richard, Sarath, Gautam, and Schlegel, Vicki L.

Abstract

Poaceae encompasses many species with substantial regrowth potential, providing a sustainable source of bioactive agents. Research remains limited on the type of grass providing the highest bioactive yields, the optimal harvest time, and the agents present at these times. Therefore, the objective of this study was to evaluate two amenity grasses, supina bluegrass (Poa supinaSchrad.) and bermudagrass [Cynodon dactylon(L.) Pers.], as novel sources of dietary bioagents. Considering that bioactives are typically extracted from seedlings, this investigation evaluated alterations in soluble phenolic content or composition and antioxidative capacity during seedling growth (0–21 d). Both supina bluegrass and bermudagrass seedlings contained total soluble free phenols (TSFP) levels comparable with those present in fruits and vegetables. In bermudagrass, the most apparent changes occurred after 21 d of growth, exhibiting a significant spike in TSFP (7.7 mg gallic acid equivalents g−1), total soluble free flavonoids (TSFF, 3.0 mg catechin equivalents g−1), and antioxidant capacity values (96.6 mg trolox equivalents g−1). Kaempferol was abundant throughout the stages and increased to 1.97 mg g−1at 21 d. Only subtle differences in TSFP, TSFF, and antioxidant capacity were detected during supina bluegrass seedling growth. Analysis of the phenolic profile of supina bluegrass showed increasing ferulic acid (7.75 μg g−1fresh wt. at 21 d) and caffeic acid (2.15 μg mL−1fresh wt. at 21 d) over time. These results support that bermudagrass and supina bluegrass seedlings are viable sources for phenolic bioactives.

Published
2018
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46. SMC4Loss of Function Is a New Cause of Inherited Bone Marrow Failure

Author

Baiel, Joshua, Wegner, Daniel J, Wambach, Jennifer A, and Warren, Julia T.

Abstract

Inherited bone marrow failure syndromes (IBMFS) are a rare, heterogenous group of syndromes that are characterized by cytopenias, bone marrow hypocellularity, and in many cases an increased risk of transformation to myeloid malignancy. Presentation with severe pancytopenias at birth is reported but occurs very rarely, and more often neonatal pancytopenia is attributed to congenital and acquired infections or other acquired causes. We present the case of a preterm neonate with pancytopenia from birth and bone marrow failure of no known infectious, other acquired, or genetic etiology. Antenatal findings were notable for non-immune hydrops fetalis at 30 weeks of gestation prompting delivery. The initial laboratory evaluation revealed a normocytic, reticulocytopenic, severe anemia; leukopenia with an absolute neutrophil count of 500; and severe thrombocytopenia. Viral testing, including parvovirus, rubella, herpes simplex virus, cytomegalovirus, adenovirus, and enterovirus, was negative. Additional testing, including a chromosomal microarray, mitochondrial genome sequencing, chromosome stress testing, neonatal alloimmune thrombocytopenia panel, and telomere length analysis, was non-diagnostic. Bone marrow biopsy showed a remarkably hypoplastic marrow without evidence of dysplasia or cytogenetic abnormalities. The proband underwent matched unrelated donor hematopoietic stem cell transplant, and died approximately one month later from post-transplantation complications including hepatic veno-occlusive disease, thrombotic microangiopathy, CNS and pulmonary hemorrhages, pseudomonal sepsis, and multi-organ dysfunction. Autopsy was significant for microscopic pancreatic atrophy with lipomatous hypertrophy and osteopenia.

Published
2023
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50. Progress toward ignition at the National Ignition Facility

Author

Hinkel, D E, primary, Edwards, M J, additional, Amendt, P A, additional, Benedetti, R, additional, Hopkins, L Berzak, additional, Bleuel, D, additional, Boehly, T R, additional, Bradley, D K, additional, Caggiano, J A, additional, Callahan, D A, additional, Celliers, P M, additional, Cerjan, C J, additional, Clark, D, additional, Collins, G W, additional, Dewald, E L, additional, Dittrich, T R, additional, Divol, L, additional, Dixit, S N, additional, Doeppner, T, additional, Edgell, D, additional, Eggert, J, additional, Farley, D, additional, Frenje, J A, additional, Glebov, V, additional, Glenn, S M, additional, Haan, S W, additional, Hamza, A, additional, Hammel, B A, additional, Haynam, C A, additional, Hammer, J H, additional, Heeter, R F, additional, Herrmann, H W, additional, Ho, D, additional, Hurricane, O, additional, Izumi, N, additional, Gatu Johnson, M, additional, Jones, O S, additional, Kalantar, D H, additional, Kauffman, R L, additional, Kilkenny, J D, additional, Kline, J L, additional, Knauer, J P, additional, Koch, J A, additional, Kritcher, A, additional, Kyrala, G A, additional, LaFortune, K, additional, Landen, O L, additional, Lasinski, B F, additional, Ma, T, additional, Mackinnon, A J, additional, Macphee, A J, additional, Mapoles, E, additional, Milovich, J L, additional, Moody, J D, additional, Meeker, D, additional, Meezan, N B, additional, Michel, P, additional, Moore, A S, additional, Munro, D H, additional, Nikroo, A, additional, Olson, R E, additional, Opachich, K, additional, Pak, A, additional, Parham, T, additional, Patel, P, additional, Park, H-S, additional, Petrasso, R P, additional, Ralph, J, additional, Regan, S P, additional, Remington, B A, additional, Rinderknecht, H G, additional, Robey, H F, additional, Rosen, M D, additional, Ross, J S, additional, Rygg, R, additional, Salmonson, J D, additional, Sangster, T C, additional, Schneider, M B, additional, Smalyuk, V, additional, Spears, B K, additional, Springer, P T, additional, Storm, E, additional, Strozzi, D J, additional, Suter, L J, additional, Thomas, C A, additional, Town, R P J, additional, Williams, E A, additional, Weber, S V, additional, Wegner, P J, additional, Wilson, D C, additional, Widmann, K, additional, Yeamans, C, additional, Zylstra, A, additional, Lindl, J D, additional, Atherton, L J, additional, Hsing, W W, additional, MacGowan, B J, additional, Van Wonterghem, B M, additional, and Moses, E I, additional

Published
2013
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