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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
De Wachter E, De Boeck K, Sermet-Gaudelus I, Simmonds NJ, Munck A, Naehrlich L, Barben J, Boyd C, Veen SJ, Carr SB, Fajac I, Farrell PM, Girodon E, Gonska T, Grody WW, Jain M, Jung A, Kerem E, Raraigh KS, van Koningsbruggen-Rietschel S, Waller MD, Southern KW, Castellani C; ECFS Diagnostic Network Working Group. De Wachter E, et al. Among authors: grody ww. J Cyst Fibros. 2024 May;23(3):388-397. doi: 10.1016/j.jcf.2024.01.012. Epub 2024 Feb 22. J Cyst Fibros. 2024. PMID: 38388234 Review.
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.
Saeidian AH, March ME, Youssefian L, Watson DJ, Bhandari E, Wang X, Zhao X, Owen NM, Strong A, Harr MH; CAG Secondary Finding Consortium; Bhoj E, Zackai E, Vahidnezhad H, Gudjonsson JE, Cederbaum SD, Deignan JL, Glessner J, Grody WW, Hakonarson H. Saeidian AH, et al. Among authors: grody ww. Genet Med. 2024 Nov;26(11):101225. doi: 10.1016/j.gim.2024.101225. Epub 2024 Jul 31. Genet Med. 2024. PMID: 39096151 Free article.
Genetics of Disorders of Sex Development: The DSD-TRN Experience.
Délot EC, Papp JC; DSD-TRN Genetics Workgroup; Sandberg DE, Vilain E. Délot EC, et al. Endocrinol Metab Clin North Am. 2017 Jun;46(2):519-537. doi: 10.1016/j.ecl.2017.01.015. Epub 2017 Mar 28. Endocrinol Metab Clin North Am. 2017. PMID: 28476235 Free PMC article. Review.
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Zodanu GKE, Hwang JH, Mehta Z, Sisniega C, Barsegian A, Kang X, Biniwale R, Si MS, Satou GM, Halnon N, Ucla Congenital Heart Defect BioCore Faculty, Grody WW, Van Arsdell GS, Nelson SF, Touma M. Zodanu GKE, et al. Among authors: grody ww. Int J Mol Sci. 2024 May 17;25(10):5469. doi: 10.3390/ijms25105469. Int J Mol Sci. 2024. PMID: 38791509 Free PMC article.
A Primer on Gene Editing: What Does It Mean for Pathologists?
Cushman-Vokoun A, Schmidt RJ, Hiemenz MC, Fung M, Zhang BM, Bradshaw G, Gandhi M, Yao J, Yohe S, Beckman A, Grody WW, Giannikopoulos P. Cushman-Vokoun A, et al. Among authors: grody ww. Arch Pathol Lab Med. 2023 Aug 23. doi: 10.5858/arpa.2022-0410-CP. Online ahead of print. Arch Pathol Lab Med. 2023. PMID: 37610100 Free article.
A Primer on Gene Editing.
Cushman-Vokoun A, Schmidt RJ, Hiemenz MC, Fung M, Zhang BM, Bradshaw G, Gandhi M, Yao J, Yohe S, Beckman A, Grody WW, Giannikopoulos P. Cushman-Vokoun A, et al. Among authors: grody ww. Arch Pathol Lab Med. 2023 Aug 22. doi: 10.5858/arpa.2022-0410-CP. Online ahead of print. Arch Pathol Lab Med. 2023. PMID: 37603682 Free article.
Synonymous Variants of Uncertain Silence.
Giacoletto CJ, Rotter JI, Grody WW, Schiller MR. Giacoletto CJ, et al. Among authors: grody ww. Int J Mol Sci. 2023 Jun 23;24(13):10556. doi: 10.3390/ijms241310556. Int J Mol Sci. 2023. PMID: 37445732 Free PMC article.
227 results