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Page 1
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.
Quiat D, Kim SW, Zhang Q, Morton SU, Pereira AC, DePalma SR, Willcox JAL, McDonough B, DeLaughter DM, Gorham JM, Curran JJ, Tumblin M, Nicolau Y, Artunduaga MA, Quintanilla-Dieck L, Osorno G, Serrano L, Hamdan U, Eavey RD, Seidman CE, Seidman JG. Quiat D, et al. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2203928119. doi: 10.1073/pnas.2203928119. Epub 2022 May 18. Proc Natl Acad Sci U S A. 2022. PMID: 35584116 Free PMC article.
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.
Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Morton SU, et al. Among authors: quiat d. JAMA Cardiol. 2021 Apr 1;6(4):457-462. doi: 10.1001/jamacardio.2020.4947. JAMA Cardiol. 2021. PMID: 33084842 Free PMC article.
Discordant clinical features of identical hypertrophic cardiomyopathy twins.
Repetti GG, Kim Y, Pereira AC, Ingles J, Russell MW, Lakdawala NK, Ho CY, Day S, Semsarian C, McDonough B, DePalma SR, Quiat D, Green EM, Seidman CE, Seidman JG. Repetti GG, et al. Among authors: quiat d. Proc Natl Acad Sci U S A. 2021 Mar 9;118(10):e2021717118. doi: 10.1073/pnas.2021717118. Proc Natl Acad Sci U S A. 2021. PMID: 33658374 Free PMC article.
Genomic frontiers in congenital heart disease.
Morton SU, Quiat D, Seidman JG, Seidman CE. Morton SU, et al. Among authors: quiat d. Nat Rev Cardiol. 2022 Jan;19(1):26-42. doi: 10.1038/s41569-021-00587-4. Epub 2021 Jul 16. Nat Rev Cardiol. 2022. PMID: 34272501 Free PMC article. Review.
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.
Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Morton SU, et al. Among authors: quiat d. Circ Genom Precis Med. 2022 Apr;15(2):e003500. doi: 10.1161/CIRCGEN.121.003500. Epub 2022 Feb 7. Circ Genom Precis Med. 2022. PMID: 35130025 Free PMC article.
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Willcox JAL, et al. Among authors: quiat d. Am J Hum Genet. 2022 May 5;109(5):961-966. doi: 10.1016/j.ajhg.2022.03.011. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397206 Free PMC article.
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.
Hylind RJ, Pereira AC, Quiat D, Chandler SF, Roston TM, Pu WT, Bezzerides VJ, Seidman JG, Seidman CE, Abrams DJ. Hylind RJ, et al. Among authors: quiat d. Circ Genom Precis Med. 2022 Jun;15(3):e003507. doi: 10.1161/CIRCGEN.121.003507. Epub 2022 May 10. Circ Genom Precis Med. 2022. PMID: 35536239 Free PMC article.
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE. Quiat D, et al. Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19. Genet Med. 2023. PMID: 36260083 Free PMC article.
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y, Gunnarsdóttir OB, Viveiros A, Reichart D, Quiat D, Willcox JAL, Zhang H, Chen H, Curran JJ, Kim DH, Urschel S, McDonough B, Gorham J, DePalma SR, Seidman JG, Seidman CE, Oudit GY. Kim Y, et al. Among authors: quiat d. Circ Genom Precis Med. 2023 Oct;16(5):452-461. doi: 10.1161/CIRCGEN.123.004062. Epub 2023 Sep 28. Circ Genom Precis Med. 2023. PMID: 37767697 Free PMC article.
15 results