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HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.
Rodríguez NA, Patel N, Dariolli R, Ng S, Aleman AG, Gong JQX, Lin HM, Rodríguez M, Josowitz R, Sol-Church K, Gripp KW, Lin X, Song SC, Fishman GI, Sobie EA, Gelb BD. Rodríguez NA, et al. Among authors: patel n. Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012022. doi: 10.1161/CIRCEP.123.012022. Epub 2024 Feb 28. Circ Arrhythm Electrophysiol. 2024. PMID: 38415356
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis.
Kontorovich AR, Tang Y, Patel N, Georgievskaya Z, Shadrina M, Williams N, Moscati A, Peter I, Itan Y, Sampson B, Gelb BD. Kontorovich AR, et al. Among authors: patel n. Circ Genom Precis Med. 2021 Aug;14(4):e003426. doi: 10.1161/CIRCGEN.121.003426. Epub 2021 Jul 6. Circ Genom Precis Med. 2021. PMID: 34228484 Free PMC article.
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Griffin EL, et al. Among authors: patel n. Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21. Circ Genom Precis Med. 2023. PMID: 36803080 Free PMC article.
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
Martin-Trujillo A, Patel N, Richter F, Jadhav B, Garg P, Morton SU, McKean DM, DePalma SR, Goldmuntz E, Gruber D, Kim R, Newburger JW, Porter GA Jr, Giardini A, Bernstein D, Tristani-Firouzi M, Seidman JG, Seidman CE, Chung WK, Gelb BD, Sharp AJ. Martin-Trujillo A, et al. Among authors: patel n. PLoS Genet. 2020 Nov 20;16(11):e1009189. doi: 10.1371/journal.pgen.1009189. eCollection 2020 Nov. PLoS Genet. 2020. PMID: 33216750 Free PMC article.
Myopathic Cardiac Genotypes Increase Risk for Myocarditis.
Kontorovich AR, Patel N, Moscati A, Richter F, Peter I, Purevjav E, Selejan SR, Kindermann I, Towbin JA, Bohm M, Klingel K, Gelb BD. Kontorovich AR, et al. Among authors: patel n. JACC Basic Transl Sci. 2021 Jul 26;6(7):584-592. doi: 10.1016/j.jacbts.2021.06.001. eCollection 2021 Jul. JACC Basic Transl Sci. 2021. PMID: 34368507 Free PMC article.
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG. McKean DM, et al. Among authors: patel n. Nat Commun. 2016 Sep 27;7:12824. doi: 10.1038/ncomms12824. Nat Commun. 2016. PMID: 27670201 Free PMC article.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Manheimer KB, Patel N, Richter F, Gorham J, Tai AC, Homsy J, Boskovski MT, Parfenov M, Goldmuntz E, Chung WK, Brueckner M, Tristani-Firouzi M, Srivastava D, Seidman JG, Seidman CE, Gelb BD, Sharp AJ. Manheimer KB, et al. Among authors: patel n. Hum Mutat. 2018 Jun;39(6):870-881. doi: 10.1002/humu.23419. Epub 2018 Mar 22. Hum Mutat. 2018. PMID: 29527824 Free PMC article.
ORE identifies extreme expression effects enriched for rare variants.
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD. Richter F, et al. Among authors: patel n. Bioinformatics. 2019 Oct 15;35(20):3906-3912. doi: 10.1093/bioinformatics/btz202. Bioinformatics. 2019. PMID: 30903145 Free PMC article.
9,210 results