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Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM, Sagaser KG, Lawson CS, Hertenstein C, Jachens A, Forster KR, Miller KA, Jelin AC, Blakemore KJ, Hoover-Fong J. Beck NM, et al. Among authors: miller ka. Mol Genet Genomic Med. 2023 Jan;11(1):e2056. doi: 10.1002/mgg3.2056. Epub 2022 Nov 28. Mol Genet Genomic Med. 2023. PMID: 36444396 Free PMC article.
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Brar BK, Blakemore K, Hertenstein C, Miller JL, Miller KA, Shamseldin H, Maddirevula S, Hays T, Lianoglou B, Dukhovny S, Baker LA, Sparks TN, Wapner R, Alkuraya FS, Norton ME, Jelin AC; Fetal Sequencing Consortium. Brar BK, et al. Among authors: miller ka, miller jl. Prenat Diagn. 2024 Feb;44(2):196-204. doi: 10.1002/pd.6425. Epub 2023 Aug 18. Prenat Diagn. 2024. PMID: 37594370
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC; Fetal Sequencing Consortium. Brar BK, et al. Among authors: miller ka. Prenat Diagn. 2022 Dec;42(13):1686-1693. doi: 10.1002/pd.6269. Epub 2022 Nov 28. Prenat Diagn. 2022. PMID: 36403095 Free PMC article. Review.
4-Amidophenol Quinone Methide Precursors: Effective and Broad-Scope Nonoxime Reactivators of Organophosphorus-Inhibited Cholinesterases and Resurrectors of Organophosphorus-Aged Acetylcholinesterase.
Lovins AR, Miller KA, Buck AK, Ensey DS, Homoelle RK, Murtha MC, Ward NA, Shanahan LA, Gutti G, Shriwas P, McElroy CA, Callam CS, Hadad CM. Lovins AR, et al. Among authors: miller ka. ACS Chem Neurosci. 2024 May 1;15(9):1813-1827. doi: 10.1021/acschemneuro.4c00011. Epub 2024 Apr 15. ACS Chem Neurosci. 2024. PMID: 38621296
459 results