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Showing 1 to 12 of 38 entries
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Backbone NxH compounds at high pressures.

The Journal of chemical physics

Goncharov AF, Holtgrewe N, Qian G, Hu C, Oganov AR, Somayazulu M, Stavrou E, Pickard CJ, Berlie A, Yen F, Mahmood M, Lobanov SS, Konôpková Z, Prakapenka VB.
PMID: 26049497
J Chem Phys. 2015 Jun 07;142(21):214308. doi: 10.1063/1.4922051.

Optical and synchrotron x-ray diffraction diamond anvil cell experiments have been combined with first-principles theoretical structure predictions to investigate mixtures of N2 and H2 up to 55 GPa. Our experiments show the formation of structurally complex van der Waals...

Stable magnesium peroxide at high pressure.

Scientific reports

Lobanov SS, Zhu Q, Holtgrewe N, Prescher C, Prakapenka VB, Oganov AR, Goncharov AF.
PMID: 26323635
Sci Rep. 2015 Sep 01;5:13582. doi: 10.1038/srep13582.

Rocky planets are thought to comprise compounds of Mg and O as these are among the most abundant elements, but knowledge of their stable phases may be incomplete. MgO is known to be remarkably stable to very high pressure...

Inter-channel effects in monosolvated atomic iodide cluster anion detachment: correlation of the anisotropy parameter with solvent dipole moment.

The Journal of chemical physics

Mbaiwa F, Dao D, Holtgrewe N, Lasinski J, Mabbs R.
PMID: 22443760
J Chem Phys. 2012 Mar 21;136(11):114303. doi: 10.1063/1.3694244.

Photoelectron imaging results are presented for I(-)[middle dot]X cluster anions (X = CO(2), C(4)H(5)N [pyrrole], (CH(3))(2)CO, CH(3)NO(2)). The available detachment channels are labeled according to the neutral iodine atom states produced (channel I ≡ (2)P(3/2) and channel II ≡...

VarFish: comprehensive DNA variant analysis for diagnostics and research.

Nucleic acids research

Holtgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D.
PMID: 32338743
Nucleic Acids Res. 2020 Jul 02;48:W162-W169. doi: 10.1093/nar/gkaa241.

VarFish is a user-friendly web application for the quality control, filtering, prioritization, analysis, and user-based annotation of DNA variant data with a focus on rare disease genetics. It is capable of processing variant call files with single or multiple...

Exome Sequencing of 5 Families with Severe Early-Onset Periodontitis.

Journal of dental research

Richter GM, Wagner G, Reichenmiller K, Staufenbiel I, Martins O, Löscher BS, Holtgrewe M, Jepsen S, Dommisch H, Schaefer AS.
PMID: 34515563
J Dent Res. 2021 Sep 13;220345211029266. doi: 10.1177/00220345211029266. Epub 2021 Sep 13.

Periodontitis is characterized by alveolar bone loss leading to tooth loss. A small proportion of patients develop severe periodontitis at the juvenile or adolescent age without exposure to the main risk factors of the disease. It is considered that...

Increased risk of severe clinical course of COVID-19 in carriers of HLA-C*04:01.

EClinicalMedicine

Weiner J, Suwalski P, Holtgrewe M, Rakitko A, Thibeault C, Müller M, Patriki D, Quedenau C, Krüger U, Ilinsky V, Popov I, Balnis J, Jaitovich A, Helbig ET, Lippert LJ, Stubbemann P, Real LM, Macías J, Pineda JA, Fernandez-Fuertes M, Wang X, Karadeniz Z, Saccomanno J, Doehn JM, Hübner RH, Hinzmann B, Salvo M, Blueher A, Siemann S, Jurisic S, Beer JH, Rutishauser J, Wiggli B, Schmid H, Danninger K, Binder R, Corman VM, Mühlemann B, Arjun Arkal R, Fragiadakis GK, Mick E, Comet C, Calfee CS, Erle DJ, Hendrickson CM, Kangelaris KN, Krummel MF, Woodruff PG, Langelier CR, Venkataramani U, García F, Zyla J, Drosten C, Alice B, Jones TC, Suttorp N, Witzenrath M, Hippenstiel S, Zemojtel T, Skurk C, Poller W, Borodina T, Pa-Covid SG, Ripke S, Sander LE, Beule D, Landmesser U, Guettouche T, Kurth F, Heidecker B.
PMID: 34490415
EClinicalMedicine. 2021 Oct;40:101099. doi: 10.1016/j.eclinm.2021.101099. Epub 2021 Sep 02.

BACKGROUND: Since the beginning of the coronavirus disease 2019 (COVID-19) pandemic, there has been increasing urgency to identify pathophysiological characteristics leading to severe clinical course in patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Human leukocyte antigen...

Evolution of Topological Surface States Following Sb Layer Adsorption on Bi.

Materials (Basel, Switzerland)

Holtgrewe K, Hogan C, Sanna S.
PMID: 33918428
Materials (Basel). 2021 Apr 02;14(7). doi: 10.3390/ma14071763.

Thin antimony layers adsorbed on bismuth selenide (Bi2Se3) present an exciting topological insulator system. Much recent effort has been made to understand the synthesis and electronic properties of the heterostructure, particularly the migration of the topological surface states under...

Inter-channel effects in monosolvated atomic iodide cluster anion detachment: correlation of the anisotropy parameter with solvent dipole moment.

The Journal of chemical physics

Mbaiwa F, Dao D, Holtgrewe N, Lasinski J, Mabbs R.
PMID: 22443760
J Chem Phys. 2012 Mar 21;136(11):114303. doi: 10.1063/1.3694244.

Photoelectron imaging results are presented for I(-)[middle dot]X cluster anions (X = CO(2), C(4)H(5)N [pyrrole], (CH(3))(2)CO, CH(3)NO(2)). The available detachment channels are labeled according to the neutral iodine atom states produced (channel I ≡ (2)P(3/2) and channel II ≡...

Sustainable data analysis with Snakemake.

F1000Research

Mölder F, Jablonski KP, Letcher B, Hall MB, Tomkins-Tinch CH, Sochat V, Forster J, Lee S, Twardziok SO, Kanitz A, Wilm A, Holtgrewe M, Rahmann S, Nahnsen S, Köster J.
PMID: 34035898
F1000Res. 2021 Jan 18;10:33. doi: 10.12688/f1000research.29032.1. eCollection 2021.

Data analysis often entails a multitude of heterogeneous steps, from the application of various command line tools to the usage of scripting languages like R or Python for the generation of plots and tables. It is widely recognized that...

Sustainable data analysis with Snakemake.

F1000Research

Mölder F, Jablonski KP, Letcher B, Hall MB, Tomkins-Tinch CH, Sochat V, Forster J, Lee S, Twardziok SO, Kanitz A, Wilm A, Holtgrewe M, Rahmann S, Nahnsen S, Köster J.
PMID: 34035898
F1000Res. 2021 Jan 18;10:33. doi: 10.12688/f1000research.29032.2. eCollection 2021.

Data analysis often entails a multitude of heterogeneous steps, from the application of various command line tools to the usage of scripting languages like R or Python for the generation of plots and tables. It is widely recognized that...

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.

Journal of inherited metabolic disease

Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B.
PMID: 33320377
J Inherit Metab Dis. 2021 Jul;44(4):972-986. doi: 10.1002/jimd.12341. Epub 2021 Feb 04.

Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the mitochondrial proline cycle....

Combining callers improves the detection of copy number variants from whole-genome sequencing.

European journal of human genetics : EJHG

Coutelier M, Holtgrewe M, Jäger M, Flöttman R, Mensah MA, Spielmann M, Krawitz P, Horn D, Beule D, Mundlos S.
PMID: 34744167
Eur J Hum Genet. 2021 Nov 08; doi: 10.1038/s41431-021-00983-x. Epub 2021 Nov 08.

Copy Number Variants (CNVs) are deletions, duplications or insertions larger than 50 base pairs. They account for a large percentage of the normal genome variation and play major roles in human pathology. While array-based approaches have long been used...

Showing 1 to 12 of 38 entries