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Page 1
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM; National Birth Defects Prevention Study; University of Washington Center for Mendelian Genomics; Mital S, Chong JX, Nascone-Yoder NM, Bamshad MJ. Blue EE, et al. Among authors: mital s. HGG Adv. 2023 Aug 12;4(4):100232. doi: 10.1016/j.xhgg.2023.100232. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37663545 Free PMC article.
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: mital s. 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.
Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome.
Miao Y, Tian L, Martin M, Paige SL, Galdos FX, Li J, Klein A, Zhang H, Ma N, Wei Y, Stewart M, Lee S, Moonen JR, Zhang B, Grossfeld P, Mital S, Chitayat D, Wu JC, Rabinovitch M, Nelson TJ, Nie S, Wu SM, Gu M. Miao Y, et al. Among authors: mital s. Cell Stem Cell. 2020 Oct 1;27(4):574-589.e8. doi: 10.1016/j.stem.2020.07.015. Epub 2020 Aug 17. Cell Stem Cell. 2020. PMID: 32810435 Free PMC article.
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Pierpont ME, et al. Among authors: mital s. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. Circulation. 2018. PMID: 30571578 Free PMC article. Review.
KMT2D-NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart Syndrome.
Yu Z, Zhou X, Liu Z, Pastrana-Gomez V, Liu Y, Guo M, Tian L, Nelson TJ, Wang N, Mital S, Chitayat D, Wu JC, Rabinovitch M, Wu SM, Snyder MP, Miao Y, Gu M. Yu Z, et al. Among authors: mital s. Circ Res. 2022 Jul 22;131(3):280-282. doi: 10.1161/CIRCRESAHA.122.320783. Epub 2022 Jun 28. Circ Res. 2022. PMID: 35762338 Free PMC article. No abstract available.
Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: the single ventricle reconstruction trial.
Newburger JW, Sleeper LA, Bellinger DC, Goldberg CS, Tabbutt S, Lu M, Mussatto KA, Williams IA, Gustafson KE, Mital S, Pike N, Sood E, Mahle WT, Cooper DS, Dunbar-Masterson C, Krawczeski CD, Lewis A, Menon SC, Pemberton VL, Ravishankar C, Atz TW, Ohye RG, Gaynor JW; Pediatric Heart Network Investigators. Newburger JW, et al. Among authors: mital s. Circulation. 2012 May 1;125(17):2081-91. doi: 10.1161/CIRCULATIONAHA.111.064113. Epub 2012 Mar 28. Circulation. 2012. PMID: 22456475 Free PMC article. Clinical Trial.
256 results