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Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
Gordon DM, Cunningham D, Zender G, Lawrence PJ, Penaloza JS, Lin H, Fitzgerald-Butt SM, Myers K, Duong T, Corsmeier DJ, Gaither JB, Kuck HC, Wijeratne S, Moreland B, Kelly BJ; Baylor-Johns Hopkins Center for Mendelian Genomics; Garg V, White P, McBride KL. Gordon DM, et al. Among authors: fitzgerald butt sm. PLoS Genet. 2022 Jun 23;18(6):e1010236. doi: 10.1371/journal.pgen.1010236. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35737725 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. 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.
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Hanchard NA, et al. Am J Med Genet A. 2017 Aug;173(8):2176-2188. doi: 10.1002/ajmg.a.38309. Epub 2017 Jun 27. Am J Med Genet A. 2017. PMID: 28653806 Free PMC article.
32 results