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2011 1
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Page 1
SarcTrack.
Toepfer CN, Sharma A, Cicconet M, Garfinkel AC, Mücke M, Neyazi M, Willcox JAL, Agarwal R, Schmid M, Rao J, Ewoldt J, Pourquié O, Chopra A, Chen CS, Seidman JG, Seidman CE. Toepfer CN, et al. Among authors: willcox jal. Circ Res. 2019 Apr 12;124(8):1172-1183. doi: 10.1161/CIRCRESAHA.118.314505. Circ Res. 2019. PMID: 30700234 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: willcox jal. 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.
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Jang MY, et al. Among authors: willcox jal. Circ Genom Precis Med. 2023 Jun;16(3):224-231. doi: 10.1161/CIRCGEN.122.003924. Epub 2023 May 11. Circ Genom Precis Med. 2023. PMID: 37165897 Free PMC article.
Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy.
Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, Lunde IG, Wakimoto H, Smith AM, Toepfer CN, Getz K, Gorham J, Patel P, Ito K, Willcox JA, Arany Z, Li J, Owens AT, Govind R, Nuñez B, Mazaika E, Bayes-Genis A, Walsh R, Finkelman B, Lupon J, Whiffin N, Serrano I, Midwinter W, Wilk A, Bardaji A, Ingold N, Buchan R, Tayal U, Pascual-Figal DA, de Marvao A, Ahmad M, Garcia-Pinilla JM, Pantazis A, Dominguez F, John Baksi A, O'Regan DP, Rosen SD, Prasad SK, Lara-Pezzi E, Provencio M, Lyon AR, Alonso-Pulpon L, Cook SA, DePalma SR, Barton PJR, Aplenc R, Seidman JG, Ky B, Ware JS, Seidman CE. Garcia-Pavia P, et al. Among authors: willcox ja. Circulation. 2019 Jul 2;140(1):31-41. doi: 10.1161/CIRCULATIONAHA.118.037934. Epub 2019 Apr 16. Circulation. 2019. PMID: 30987448 Free PMC article.
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA Jr, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Ward T, et al. Among authors: willcox jal. Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9. Circ Res. 2021. PMID: 33557580 Free PMC article. Clinical Trial.
Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy.
Patel PN, Ito K, Willcox JAL, Haghighi A, Jang MY, Gorham JM, DePalma SR, Lam L, McDonough B, Johnson R, Lakdawala NK, Roberts A, Barton PJR, Cook SA, Fatkin D, Seidman CE, Seidman JG. Patel PN, et al. Among authors: willcox jal. Circ Genom Precis Med. 2021 Oct;14(5):e003389. doi: 10.1161/CIRCGEN.121.003389. Epub 2021 Aug 31. Circ Genom Precis Med. 2021. PMID: 34461741 Free PMC article. Clinical Trial.
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. 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.
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. Among authors: willcox jal. 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.
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm.
Sharma A, Wasson LK, Willcox JA, Morton SU, Gorham JM, DeLaughter DM, Neyazi M, Schmid M, Agarwal R, Jang MY, Toepfer CN, Ward T, Kim Y, Pereira AC, DePalma SR, Tai A, Kim S, Conner D, Bernstein D, Gelb BD, Chung WK, Goldmuntz E, Porter G, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE; Pediatric Cardiac Genomics Consortium. Sharma A, et al. Among authors: willcox ja. Elife. 2020 Oct 15;9:e53278. doi: 10.7554/eLife.53278. Elife. 2020. PMID: 33054971 Free PMC article.
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y. Hsieh A, et al. Among authors: willcox jal. Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1. Genome Med. 2020. PMID: 32349777 Free PMC article.
15 results