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The NORMAN Suspect List Exchange (NORMAN-SLE): facilitating European and worldwide collaboration on suspect screening in high resolution mass spectrometry.
Mohammed Taha H, Aalizadeh R, Alygizakis N, Antignac JP, Arp HPH, Bade R, Baker N, Belova L, Bijlsma L, Bolton EE, Brack W, Celma A, Chen WL, Cheng T, Chirsir P, Čirka Ľ, D'Agostino LA, Djoumbou Feunang Y, Dulio V, Fischer S, Gago-Ferrero P, Galani A, Geueke B, Głowacka N, Glüge J, Groh K, Grosse S, Haglund P, Hakkinen PJ, Hale SE, Hernandez F, Janssen EM, Jonkers T, Kiefer K, Kirchner M, Koschorreck J, Krauss M, Krier J, Lamoree MH, Letzel M, Letzel T, Li Q, Little J, Liu Y, Lunderberg DM, Martin JW, McEachran AD, McLean JA, Meier C, Meijer J, Menger F, Merino C, Muncke J, Muschket M, Neumann M, Neveu V, Ng K, Oberacher H, O'Brien J, Oswald P, Oswaldova M, Picache JA, Postigo C, Ramirez N, Reemtsma T, Renaud J, Rostkowski P, Rüdel H, Salek RM, Samanipour S, Scheringer M, Schliebner I, Schulz W, Schulze T, Sengl M, Shoemaker BA, Sims K, Singer H, Singh RR, Sumarah M, Thiessen PA, Thomas KV, Torres S, Trier X, van Wezel AP, Vermeulen RCH, Vlaanderen JJ, von der Ohe PC, Wang Z, Williams AJ, Willighagen EL, Wishart DS, Zhang J, Thomaidis NS, Hollender J, Slobodnik J, Schymanski EL. Mohammed Taha H, et al. Among authors: krier j. Environ Sci Eur. 2022;34(1):104. doi: 10.1186/s12302-022-00680-6. Epub 2022 Oct 21. Environ Sci Eur. 2022. PMID: 36284750 Free PMC article.
ShinyTPs: Curating Transformation Products from Text Mining Results.
Palm EH, Chirsir P, Krier J, Thiessen PA, Zhang J, Bolton EE, Schymanski EL. Palm EH, et al. Among authors: krier j. Environ Sci Technol Lett. 2023 Sep 29;10(10):865-871. doi: 10.1021/acs.estlett.3c00537. eCollection 2023 Oct 10. Environ Sci Technol Lett. 2023. PMID: 37840815 Free PMC article.
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Nadimpalli Kobren S, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Willett J, Berselli M, Ronchetti W, Sherwood R, Krier J, Kohane IS; Undiagnosed Diseases Network; Sunyaev SR. Nadimpalli Kobren S, et al. Among authors: krier j. bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580158. doi: 10.1101/2024.02.13.580158. bioRxiv. 2024. PMID: 38405764 Free PMC article. Preprint.
Low-frequency inherited complement receptor variants are associated with purpura fulminans.
Bendapudi PK, Nazeen S, Ryu J, Söylemez O, Robbins A, Rouaisnel B, O'Neil JK, Pokhriyal R, Yang M, Colling M, Pasko B, Bouzinier M, Tomczak L, Collier L, Barrios D, Ram S, Toth-Petroczy A, Krier J, Fieg E, Dzik WH, Hudspeth JC, Pozdnyakova O, Nardi V, Knight J, Maas R, Sunyaev S, Losman JA. Bendapudi PK, et al. Among authors: krier j. Blood. 2024 Mar 14;143(11):1032-1044. doi: 10.1182/blood.2023021231. Blood. 2024. PMID: 38096369
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases.
Mueller AA, Sasaki T, Keegan JW, Nguyen JP, Griffith A, Horisberger AM, Licata T, Fieg E, Cao Y, Elahee M, Marks KE, Simmons DP, Briere LC, Cobban LA, Pallais JC, High FA, Walker MA, Linnoila JJ, Sparks JA, Holers VM, Costenbader KH; Undiagnosed Diseases Network; Sweetser DA, Krier JB, Loscalzo J, Lederer JA, Rao DA. Mueller AA, et al. Among authors: krier jb. J Clin Invest. 2023 Dec 15;133(24):e169619. doi: 10.1172/JCI169619. J Clin Invest. 2023. PMID: 37874643 Free PMC article. No abstract available.
Obesity Blunts the Effect of Mesenchymal Stem Cell-Derived Extracellular Vesicles.
Huang W, Hong S, Zhu X, Alsaeedi MH, Tang H, Krier JD, Gandhi D, Jordan KL, Saadiq IM, Jiang Y, Eirin A, Lerman LO. Huang W, et al. Among authors: krier jd. Kidney Int Rep. 2023 Jun 21;8(9):1841-1851. doi: 10.1016/j.ekir.2023.06.009. eCollection 2023 Sep. Kidney Int Rep. 2023. PMID: 37705914 Free PMC article.
234 results