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287 results

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Page 1
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Soomann M, Bily V, Elgizouli M, Kraemer D, Akgül G, von Bernuth H, Bloomfield M, Brodszki N, Candotti F, Förster-Waldl E, Freiberger T, Giżewska M, Klocperk A, Kölsch U, Nichols KE, Krüger R, Oak N, Pac M, Prader S, Schmiegelow K, Šedivá A, Sogkas G, Stittrich A, Stoltze UK, Theodoropoulou K, Wadt K, Wong M, Zeyda M, Pachlopnik Schmid J, Trück J. Soomann M, et al. Among authors: nichols ke. J Allergy Clin Immunol. 2024 Nov;154(5):1313-1324.e7. doi: 10.1016/j.jaci.2024.08.002. Epub 2024 Aug 13. J Allergy Clin Immunol. 2024. PMID: 39147326 Free article. Review.
The Genetic and Epigenetic Features of Bilateral Wilms Tumor Predisposition: A Report from the Children's Oncology Group AREN18B5-Q Study.
Murphy AJ, Cheng C, Williams J, Shaw TI, Pinto EM, Dieseldorff-Jones K, Brzezinski J, Renfro LA, Tornwall B, Huff V, Hong AL, Mullen EA, Crompton B, Dome JS, Fernandez CV, Geller JI, Ehrlich PF, Mulder H, Oak N, Maciezsek J, Jablonowski C, Fleming AM, Pichavaram P, Morton CL, Easton J, Nichols KE, Clay MR, Santiago T, Zhang J, Yang J, Zambetti GP, Wang Z, Davidoff AM, Chen X. Murphy AJ, et al. Among authors: nichols ke. Res Sq [Preprint]. 2023 Mar 16:rs.3.rs-2675436. doi: 10.21203/rs.3.rs-2675436/v1. Res Sq. 2023. Update in: Nat Commun. 2023 Dec 18;14(1):8006. doi: 10.1038/s41467-023-43730-0 PMID: 36993649 Free PMC article. Updated. Preprint.
Performance of Tumor Surveillance for Children With Cancer Predisposition.
Blake A, Perrino MR, Morin CE, Taylor L, McGee RB, Lewis S, Hines-Dowell S, Pandey A, Turner P, Kubal M, Su Y, Tang L, Howell L, Harrison LW, Abramson Z, Schechter A, Sabin ND, Nichols KE. Blake A, et al. Among authors: nichols ke. JAMA Oncol. 2024 Aug 1;10(8):1060-1067. doi: 10.1001/jamaoncol.2024.1878. JAMA Oncol. 2024. PMID: 38900420
Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics.
Hines-Dowell S, McNamara E, Mostafavi R, Taylor L, Harrison L, McGee RB, Blake AK, Lewis S, Perrino M, Mandrell B, Nichols KE. Hines-Dowell S, et al. Among authors: nichols ke. J Pediatr Hematol Oncol Nurs. 2024 Mar-Apr;41(2):140-147. doi: 10.1177/27527530231214540. Epub 2024 Feb 12. J Pediatr Hematol Oncol Nurs. 2024. PMID: 38347731
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: nichols ke. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
JAK Inhibitors in Cytokine Storm Syndromes.
Keenan C, Albeituni S, Nichols KE, Hines M. Keenan C, et al. Among authors: nichols ke. Adv Exp Med Biol. 2024;1448:583-600. doi: 10.1007/978-3-031-59815-9_39. Adv Exp Med Biol. 2024. PMID: 39117841 Review.
A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.
Howard Sharp KM, Clark ME, Jurbergs N, Ouma A, Harrison L, Taylor L, Hamilton K, McGee RB, Nuccio R, Hines-Dowell S, Gattuso JS, Pritchard M, Mandrell B, Tercyak KP, Johnson LM, Nichols KE. Howard Sharp KM, et al. Among authors: nichols ke. Fam Cancer. 2024 Nov;23(4):551-561. doi: 10.1007/s10689-024-00417-9. Epub 2024 Sep 20. Fam Cancer. 2024. PMID: 39302531
The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study.
Negm L, Chung J, Nobre L, Bennett J, Fernandez NR, Nunes NM, Liu ZA, Komosa M, Aronson M, Zhang C, Stengs L, Bianchi V, Edwards M, Doherty S, Ercan AB, Cardenas MF, Macias M, Lueder MR, Ku M, Johnson M, Chang Y, Dimayacyac JR, Kraya AA, Guo Y, Naky S, Keith J, Gao AF, Munoz DG, Nguyen L, Tsang DS, Lim-Fat MJ, Das S, Shlien A, Ramaswamy V, Huang A, Malkin D, Villani A, Ertl-Wagner B, Levine A, Robinson GW, Pollock BH, Spector LG, Sei S, Dirks PB, Getz G, Nichols KE, Resnick AC, Wheeler DA, Das A, Maruvka YE, Hawkins C, Tabori U. Negm L, et al. Among authors: nichols ke. Lancet Oncol. 2024 Dec 16:S1470-2045(24)00640-5. doi: 10.1016/S1470-2045(24)00640-5. Online ahead of print. Lancet Oncol. 2024. PMID: 39701117
Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study.
de Bloeme CM, Jansen RW, Cardoen L, Göricke S, van Elst S, Jessen JL, Ramasubramanian A, Skalet AH, Miller AK, Maeder P, Uner OE, Hubbard GB, Grossniklaus H, Boldt HC, Nichols KE, Brennan RC, Sen S, Koob M, Sirin S, Brisse HJ, Galluzzi P, Dommering CJ, Cysouw M, Boellaard R, Dorsman JC, Moll AC, de Jong MC, de Graaf P; European Retinoblastoma Imaging Collaboration. de Bloeme CM, et al. Among authors: nichols ke. Sci Rep. 2024 Oct 23;14(1):25103. doi: 10.1038/s41598-024-76933-6. Sci Rep. 2024. PMID: 39443629 Free PMC article.
287 results