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Items: 1 to 20 of 499

1.
2.

Reconstitution of Molybdoenzymes with Bis-Molybdopterin Guanine Dinucleotide Cofactors.

Kaufmann P, Iobbi-Nivol C, Leimkühler S.

Methods Mol Biol. 2019;1876:141-152. doi: 10.1007/978-1-4939-8864-8_9.

PMID:
30317479
3.

Deep Learning Analysis of Upright-Supine High-Efficiency SPECT Myocardial Perfusion Imaging for Prediction of Obstructive Coronary Artery Disease: A Multicenter Study.

Betancur JA, Hu LH, Commandeur F, Sharir T, Einstein AJ, Fish MB, Ruddy TD, Kaufmann P, Sinusas AJ, Miller EJ, Bateman TM, Dorbala S, Di Carli M, Germano G, Otaki Y, Liang JX, Tamarappoo BK, Dey D, Berman DS, Slomka PJ.

J Nucl Med. 2018 Sep 27. pii: jnumed.118.213538. doi: 10.2967/jnumed.118.213538. [Epub ahead of print]

PMID:
30262516
4.

Privacy-Preserving Linkage of Genomic and Clinical Data Sets.

Baker D, Knoppers BM, Phillips M, van Enckevort D, Kaufmann P, Lochmuller H, Taruscio D.

IEEE/ACM Trans Comput Biol Bioinform. 2018 Jul 30. doi: 10.1109/TCBB.2018.2855125. [Epub ahead of print]

PMID:
30059313
5.

Incidental Findings on Coronary Computed Tomography Angiography in Human Immunodeficiency Virus (HIV)-Positive and HIV-Negative Persons.

Reinschmidt S, Turk T, Tarr PE, Kouyos R, Hauser C, Schmid P, Weber R, Kaufmann P, Buechel RR, Kovari H; Swiss HIV Cohort Study .

Open Forum Infect Dis. 2018 Apr 20;5(5):ofy084. doi: 10.1093/ofid/ofy084. eCollection 2018 May.

6.

Functional Studies on Oligotropha carboxidovorans Molybdenum-Copper CO Dehydrogenase Produced in Escherichia coli.

Kaufmann P, Duffus BR, Teutloff C, Leimkühler S.

Biochemistry. 2018 May 15;57(19):2889-2901. doi: 10.1021/acs.biochem.8b00128. Epub 2018 Apr 30.

PMID:
29676148
7.

Deep Learning for Prediction of Obstructive Disease From Fast Myocardial Perfusion SPECT: A Multicenter Study.

Betancur J, Commandeur F, Motlagh M, Sharir T, Einstein AJ, Bokhari S, Fish MB, Ruddy TD, Kaufmann P, Sinusas AJ, Miller EJ, Bateman TM, Dorbala S, Di Carli M, Germano G, Otaki Y, Tamarappoo BK, Dey D, Berman DS, Slomka PJ.

JACC Cardiovasc Imaging. 2018 Nov;11(11):1654-1663. doi: 10.1016/j.jcmg.2018.01.020. Epub 2018 Mar 14.

PMID:
29550305
8.

High-Fidelity Preservation of Quantum Information During Trapped-Ion Transport.

Kaufmann P, Gloger TF, Kaufmann D, Johanning M, Wunderlich C.

Phys Rev Lett. 2018 Jan 5;120(1):010501. doi: 10.1103/PhysRevLett.120.010501.

PMID:
29350951
9.

Modulating the Molybdenum Coordination Sphere of Escherichia coli Trimethylamine N-Oxide Reductase.

Kaufmann P, Duffus BR, Mitrova B, Iobbi-Nivol C, Teutloff C, Nimtz M, Jänsch L, Wollenberger U, Leimkühler S.

Biochemistry. 2018 Feb 20;57(7):1130-1143. doi: 10.1021/acs.biochem.7b01108. Epub 2018 Jan 31.

PMID:
29334455
10.

Facilitating Clinical Studies in Rare Diseases.

Gopal-Srivastava R, Kaufmann P.

Adv Exp Med Biol. 2017;1031:125-140. doi: 10.1007/978-3-319-67144-4_6. Review.

PMID:
29214568
11.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
12.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly.

Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

13.

Comment on Ely et al. A National Effort to Prevent Type 2 Diabetes: Participant-Level Evaluation of CDC's National Diabetes Prevention Program. Diabetes Care 2017;40:1331-1341.

Ritchie ND, Kaufmann P, Sauder KA.

Diabetes Care. 2017 Nov;40(11):e161-e162. doi: 10.2337/dc17-1242. No abstract available.

PMID:
29061591
14.

Treatment Advances in Spinal Muscular Atrophy.

Bharucha-Goebel D, Kaufmann P.

Curr Neurol Neurosci Rep. 2017 Oct 6;17(11):91. doi: 10.1007/s11910-017-0798-y. Review.

15.

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC).

Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Review. No abstract available.

16.

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP; International Rare Diseases Research Consortium (IRDiRC).

Clin Transl Sci. 2018 Jan;11(1):11-20. doi: 10.1111/cts.12501. Epub 2017 Oct 23. Review. No abstract available.

17.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

18.

Coronary revascularization vs. medical therapy following coronary-computed tomographic angiography in patients with low-, intermediate- and high-risk coronary artery disease: results from the CONFIRM long-term registry.

Schulman-Marcus J, Lin FY, Gransar H, Berman D, Callister T, DeLago A, Hadamitzky M, Hausleiter J, Al-Mallah M, Budoff M, Kaufmann P, Achenbach S, Raff G, Chinnaiyan K, Cademartiri F, Maffei E, Villines T, Kim YJ, Leipsic J, Feuchtner G, Rubinshtein R, Pontone G, Andreini D, Marques H, Chang HJ, Chow BJW, Cury RC, Dunning A, Shaw L, Min JK.

Eur Heart J Cardiovasc Imaging. 2017 May 1;18(8):841-848. doi: 10.1093/ehjci/jew287.

19.

Early Vision for the CTSA Program Trial Innovation Network: A Perspective from the National Center for Advancing Translational Sciences.

Shah MR, Culp MA, Gersing KR, Jones PL, Purucker ME, Urv T, Wilson TM, Kaufmann P.

Clin Transl Sci. 2017 Sep;10(5):311-313. doi: 10.1111/cts.12463. Epub 2017 Apr 6. No abstract available.

20.

Transforming Evidence Generation to Support Health and Health Care Decisions.

Califf RM, Robb MA, Bindman AB, Briggs JP, Collins FS, Conway PH, Coster TS, Cunningham FE, De Lew N, DeSalvo KB, Dymek C, Dzau VJ, Fleurence RL, Frank RG, Gaziano JM, Kaufmann P, Lauer M, Marks PW, McGinnis JM, Richards C, Selby JV, Shulkin DJ, Shuren J, Slavitt AM, Smith SR, Washington BV, White PJ, Woodcock J, Woodson J, Sherman RE.

N Engl J Med. 2016 Dec 15;375(24):2395-2400. No abstract available.

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