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Page 1
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.
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
Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study.
Zemet R, Maktabi MA, Tinfow A, Giordano JL, Heisler TM, Yan Q, Plaschkes R, Stokes J, Walsh JM, Corcoran S, Schindewolf E, Miller K, Talati AN, Miller KA, Blakemore K, Swanson K, Ramm J, Bedei I, Sparks TN, Jelin AC, Vora NL, Gebb JS, Crosby DA, Berkenstadt M, Weisz B, Wapner RJ, Van Den Veyver IB. Zemet R, et al. Among authors: miller ka, miller k. Am J Obstet Gynecol. 2024 Jun 22:S0002-9378(24)00693-8. doi: 10.1016/j.ajog.2024.06.025. Online ahead of print. Am J Obstet Gynecol. 2024. PMID: 38914189
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM; CAUSES Study; Phillips RS, Chapman G, Dunwoodie SL. Szot JO, et al. Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33942433 Free PMC article.
470 results