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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.
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.
Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.
Dar P, Jacobsson B, MacPherson C, Egbert M, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L, Haeri S, Silver R, Vohra N, Hyett J, Clunie G, Demko Z, Martin K, Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Malone C, Hallingstrom M, Klugman S, Clifton R, Kao C, Hakonarson H, Norton ME. Dar P, et al. Among authors: hakonarson h. Am J Obstet Gynecol. 2022 Aug;227(2):259.e1-259.e14. doi: 10.1016/j.ajog.2022.01.019. Epub 2022 Jan 25. Am J Obstet Gynecol. 2022. PMID: 35085538 Free article.
Elevated Levels of the Cytokine LIGHT in Pediatric Crohn's Disease.
Cardinale CJ, Abrams DJ, Mentch FD, Cardinale JA, Wang X, Kao C, Sleiman PMA, Hakonarson H. Cardinale CJ, et al. Among authors: hakonarson h. J Immunol. 2023 Mar 1;210(5):590-594. doi: 10.4049/jimmunol.2200652. J Immunol. 2023. PMID: 36688686
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.
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.
Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E. Xie HM, et al. Among authors: hakonarson h. Birth Defects Res. 2019 Aug 1;111(13):888-905. doi: 10.1002/bdr2.1534. Epub 2019 Jun 20. Birth Defects Res. 2019. PMID: 31222980 Free PMC article.
1,029 results