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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. 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. Prenat Diagn. 2024 Feb;44(2):196-204. doi: 10.1002/pd.6425. Epub 2023 Aug 18. Prenat Diagn. 2024. PMID: 37594370
Ethical Considerations Concerning Amnioinfusions for Treating Fetal Bilateral Renal Agenesis.
Sugarman J, Anderson J, Baschat AA, Herrera Beutler J, Bienstock JL, Bunchman TE, Desai NM, Gates E, Goldberg A, Grimm PC, Henry LM, Jelin EB, Johnson E, Hertenstein CB, Mastroianni AC, Mercurio MR, Neu A, Nogee LM, Polzin WJ, Ralston SJ, Ramus RM, Singleton MK, Somers MJG, Wang KC, Boss R. Sugarman J, et al. Among authors: hertenstein cb. Obstet Gynecol. 2018 Jan;131(1):130-134. doi: 10.1097/AOG.0000000000002416. Obstet Gynecol. 2018. PMID: 29215523 Review.