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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel. Lai A, et al. Among authors: spencer s. Genet Med. 2022 Nov;24(11):2240-2248. doi: 10.1016/j.gim.2022.07.020. Epub 2022 Aug 23. Genet Med. 2022. PMID: 35997716 Free PMC article.
Adopted individuals' interest in elective genomic testing.
Edgar J, Bao A, Maga T, Schwartz M, Yates C, Spencer S. Edgar J, et al. Among authors: spencer s. J Med Genet. 2022 Feb;59(2):197-203. doi: 10.1136/jmedgenet-2020-107503. Epub 2020 Dec 21. J Med Genet. 2022. PMID: 33443090
Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.
Drackley A, Brew C, Wlodaver A, Spencer S, Leuer K, Rathbun P, Charrow J, Wieneke X, Yap KL, Ing A. Drackley A, et al. Among authors: spencer s. J Mol Diagn. 2022 Oct;24(10):1100-1111. doi: 10.1016/j.jmoldx.2022.06.005. Epub 2022 Jul 19. J Mol Diagn. 2022. PMID: 35868509 Free article.
Not just carriers: experiences of X-linked female heterozygotes.
Choi J, Kane T, Propst L, Spencer S, Kostialik J, Arjunan A. Choi J, et al. Among authors: spencer s. J Assist Reprod Genet. 2021 Oct;38(10):2757-2767. doi: 10.1007/s10815-021-02270-6. Epub 2021 Jul 31. J Assist Reprod Genet. 2021. PMID: 34333720 Free PMC article.
At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
Morales A, Allain DC, Arscott P, James E, MacCarrick G, Murray B, Tichnell C, Shikany AR, Spencer S, Fitzgerald-Butt SM, Kushner JD, Munn C, Smith E, Spoonamore KG, Tandri HS, Kay WA. Morales A, et al. Among authors: spencer s. J Genet Couns. 2017 Aug;26(4):669-688. doi: 10.1007/s10897-017-0081-z. Epub 2017 Mar 10. J Genet Couns. 2017. PMID: 28283918 Free article. Review.
1,856 results