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752 results

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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. French CE, et al. Among authors: mann n. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric Patients.
Hotz A, Sprecher E, Bastianelli L, Rodean J, Stringfellow I, Barkoudah E, Cohen LE, Estrada C, Graham R, Greenwood J, Kyle J, Mann N, Pinkham M, Solari T, Rosen R, Saleeb S, Shah AS, Watters K, Wells S, Berry JG. Hotz A, et al. Among authors: mann n. JAMA Netw Open. 2023 Oct 2;6(10):e2339449. doi: 10.1001/jamanetworkopen.2023.39449. JAMA Netw Open. 2023. PMID: 37874565 Free PMC article.
Advancing the state of the art in congenital obstructive uropathy.
Jackson AR, Amado NG, Mann N, Schanstra JP, Ruano R, Mohamed T, Lee RS, Lorenzo A, McLeod D, Becknell B. Jackson AR, et al. Among authors: mann n. Nat Rev Urol. 2024 Nov 29. doi: 10.1038/s41585-024-00976-7. Online ahead of print. Nat Rev Urol. 2024. PMID: 39613986 No abstract available.
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank CN, Onuchic-Whitford AC, Kitzler TM, Mao Y, Klämbt V, Zahoor MY, Lemberg K, Majmundar AJ, Mansour B, Saida K, Seltzsam S, Kolvenbach CM, Merz LM, Mertens ND, Hermle T, Mann N, Pantel D, Halawi AA, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov IZ, Sagiv I, Eid LA, Awad HSH, Al Saffar M, Soliman NA, Nabhan MM, Kari JA, El Desoky S, Shalaby MA, Ooda S, Fathy HM, Mane S, Lifton RP, Somers MJG, Hildebrandt F. Schneider R, et al. Among authors: mann n. Genes Dis. 2024 Mar 28;12(2):101280. doi: 10.1016/j.gendis.2024.101280. eCollection 2025 Mar. Genes Dis. 2024. PMID: 39584075 Free PMC article. No abstract available.
Closing the Design-Make-Test-Analyze Loop: Interplay between Experiments and Predictions Drives PROTACs Bioavailability.
Santisteban Valencia Z, Kingston J, Miljković F, Rowbottom H, Mann N, Davies S, Ekblad M, Di Castro S, Kwapień K, Malmerberg E, Friis SD, Lundbäck T, Leek T, Wernevik J. Santisteban Valencia Z, et al. Among authors: mann n. J Med Chem. 2024 Nov 28;67(22):20242-20257. doi: 10.1021/acs.jmedchem.4c01642. Epub 2024 Nov 8. J Med Chem. 2024. PMID: 39514447
State and National Estimates of the Cost of Emergency Department Pediatric Readiness and Lives Saved.
Newgard CD, Lin A, Goldhaber-Fiebert JD, Remick KE, Gausche-Hill M, Burd RS, Malveau S, Cook JNB, Jenkins PC, Ames SG, Mann NC, Glass NE, Hewes HA, Fallat M, Salvi A, Carr BG, McConnell KJ, Stephens CQ, Ford R, Auerbach MA, Babcock S, Kuppermann N. Newgard CD, et al. Among authors: mann nc. JAMA Netw Open. 2024 Nov 4;7(11):e2442154. doi: 10.1001/jamanetworkopen.2024.42154. JAMA Netw Open. 2024. PMID: 39485354 Free PMC article.
752 results