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Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing.
Martin KA, Samango-Sprouse CA, Kantor V, Dhamankar R, Valenti E, Trefogli MT, Balosbalos I, Lagrave D, Lyons D, Kao C, Hakonarson H, Billings PR. Martin KA, et al. Among authors: hakonarson h. Am J Obstet Gynecol MFM. 2020 Aug;2(3):100152. doi: 10.1016/j.ajogmf.2020.100152. Epub 2020 Jun 25. Am J Obstet Gynecol MFM. 2020. PMID: 33345882 Free article.
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.
Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, Sleiman PMA, Li Q, Hakonarson H; Janssen-CHOP Neuropsychiatric Genomics Working Group. Glessner JT, et al. Among authors: hakonarson h. Genome Med. 2017 Nov 30;9(1):106. doi: 10.1186/s13073-017-0494-1. Genome Med. 2017. PMID: 29191242 Free PMC article.
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar P, Jacobsson B, Clifton R, Egbert M, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L, Strong N, Haeri S, Silver R, Vohra N, Hyett J, Demko Z, Martin K, Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Daly S, Hallingström M, MacPherson C, Kao C, Hakonarson H, Norton ME. Dar P, et al. Among authors: hakonarson h. Am J Obstet Gynecol. 2022 Jul;227(1):79.e1-79.e11. doi: 10.1016/j.ajog.2022.01.002. Epub 2022 Jan 13. Am J Obstet Gynecol. 2022. PMID: 35033576 Free article.
1,029 results