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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: bernstein 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.
Long-term challenges in congenital heart disease.
Bernstein D. Bernstein D. Curr Opin Pediatr. 2015 Oct;27(5):545-7. doi: 10.1097/MOP.0000000000000276. Curr Opin Pediatr. 2015. PMID: 26281037 No abstract available.
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, Yang XH, Moskowitz IP, Hurles M, Lifton RP, Nickerson D, Bamshad M, Eichler EE, Mital S, Sheffield V, Quertermous T, Gelb BD, Portman M, Ashley EA. Priest JR, et al. Among authors: bernstein d. PLoS Genet. 2016 Apr 8;12(4):e1005963. doi: 10.1371/journal.pgen.1005963. eCollection 2016 Apr. PLoS Genet. 2016. PMID: 27058611 Free PMC article.
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. Watkins WS, et al. Among authors: bernstein d. Nat Commun. 2019 Oct 17;10(1):4722. doi: 10.1038/s41467-019-12582-y. Nat Commun. 2019. PMID: 31624253 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: bernstein d. Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1. Genome Med. 2020. PMID: 32349777 Free PMC article.
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ, Rouillard AD, Fernandez NF, Wang Z, Lachmann A, Shankaran SS, Bisgrove BW, Demarest B, Turan N, Srivastava D, Bernstein D, Deanfield J, Giardini A, Porter G, Kim R, Roberts AE, Newburger JW, Goldmuntz E, Brueckner M, Lifton RP, Seidman CE, Chung WK, Tristani-Firouzi M, Yost HJ, Ma'ayan A, Gelb BD. Edwards JJ, et al. Among authors: bernstein d. JACC Basic Transl Sci. 2020 Apr 8;5(4):376-386. doi: 10.1016/j.jacbts.2020.01.012. eCollection 2020 Apr. JACC Basic Transl Sci. 2020. PMID: 32368696 Free PMC article.
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Richter F, et al. Among authors: bernstein d. Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29. Nat Genet. 2020. PMID: 32601476 Free PMC article. Clinical Trial.
1,912 results