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106 results

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Page 1
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Jin SC, et al. Among authors: brueckner m. Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9. Nat Genet. 2017. PMID: 28991257 Free PMC article.
The genetics of left-right development and heterotaxia.
Bowers PN, Brueckner M, Yost HJ. Bowers PN, et al. Among authors: brueckner m. Semin Perinatol. 1996 Dec;20(6):577-88. doi: 10.1016/s0146-0005(96)80070-x. Semin Perinatol. 1996. PMID: 9090782 Free article. Review.
Conserved function for embryonic nodal cilia.
Essner JJ, Vogan KJ, Wagner MK, Tabin CJ, Yost HJ, Brueckner M. Essner JJ, et al. Among authors: brueckner m. Nature. 2002 Jul 4;418(6893):37-8. doi: 10.1038/418037a. Nature. 2002. PMID: 12097899
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.
Pediatric Cardiac Genomics Consortium; Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E. Pediatric Cardiac Genomics Consortium, et al. Among authors: brueckner m. Circ Res. 2013 Feb 15;112(4):698-706. doi: 10.1161/CIRCRESAHA.111.300297. Circ Res. 2013. PMID: 23410879 Free PMC article.
De novo mutations in histone-modifying genes in congenital heart disease.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. Zaidi S, et al. Among authors: brueckner m. Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. Epub 2013 May 12. Nature. 2013. PMID: 23665959 Free PMC article.
CANOES: detecting rare copy number variants from whole exome sequencing data.
Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y. Backenroth D, et al. Among authors: brueckner m. Nucleic Acids Res. 2014 Jul;42(12):e97. doi: 10.1093/nar/gku345. Epub 2014 Apr 25. Nucleic Acids Res. 2014. PMID: 24771342 Free PMC article.
106 results