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Year Number of Results
2015 1
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2018 12
2019 8
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Page 1
Maternal Genetic Disorders in Pregnancy.
Harris S, Vora NL. Harris S, et al. Obstet Gynecol Clin North Am. 2018 Jun;45(2):249-265. doi: 10.1016/j.ogc.2018.01.010. Obstet Gynecol Clin North Am. 2018. PMID: 29747729 Free PMC article. Review.
Screening for fetal chromosomal and subchromosomal disorders.
Harris S, Reed D, Vora NL. Harris S, et al. Semin Fetal Neonatal Med. 2018 Apr;23(2):85-93. doi: 10.1016/j.siny.2017.10.006. Epub 2017 Nov 8. Semin Fetal Neonatal Med. 2018. PMID: 29128491 Free PMC article. Review.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Lowther C, et al. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. Am J Hum Genet. 2023. PMID: 37595579 Free PMC article.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
Prenatal phenotype of 47, XXY (Klinefelter syndrome).
Swanson K, Bishop JC, Al-Kouatly HB, Makhamreh M, Felton T, Vora NL, Sparks TN, Jelin AC. Swanson K, et al. Prenat Diagn. 2023 Feb;43(2):207-212. doi: 10.1002/pd.6071. Epub 2021 Dec 7. Prenat Diagn. 2023. PMID: 34874073 Free PMC article. Review.
44 results