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Page 1
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. Homsy J, et al. Among authors: depalma sr. Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. Science. 2015. PMID: 26785492 Free PMC article.
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Kamisago M, et al. Among authors: depalma sr. N Engl J Med. 2000 Dec 7;343(23):1688-96. doi: 10.1056/NEJM200012073432304. N Engl J Med. 2000. PMID: 11106718 Free article.
A nonsense mutation in MSX1 causes Witkop syndrome.
Jumlongras D, Bei M, Stimson JM, Wang WF, DePalma SR, Seidman CE, Felbor U, Maas R, Seidman JG, Olsen BR. Jumlongras D, et al. Among authors: depalma sr. Am J Hum Genet. 2001 Jul;69(1):67-74. doi: 10.1086/321271. Epub 2001 May 16. Am J Hum Genet. 2001. PMID: 11369996 Free PMC article.
Molecular epidemiology of hypertrophic cardiomyopathy.
Morita H, DePalma SR, Arad M, McDonough B, Barr S, Duffy C, Maron BJ, Seidman CE, Seidman JG. Morita H, et al. Among authors: depalma sr. Cold Spring Harb Symp Quant Biol. 2002;67:383-8. doi: 10.1101/sqb.2002.67.383. Cold Spring Harb Symp Quant Biol. 2002. PMID: 12858563 No abstract available.
Novel locus for an inherited cardiomyopathy maps to chromosome 7.
Song L, DePalma SR, Kharlap M, Zenovich AG, Cirino A, Mitchell R, McDonough B, Maron BJ, Seidman CE, Seidman JG, Ho CY. Song L, et al. Among authors: depalma sr. Circulation. 2006 May 9;113(18):2186-92. doi: 10.1161/CIRCULATIONAHA.106.615658. Epub 2006 May 1. Circulation. 2006. PMID: 16651466
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. Greenway SC, et al. Among authors: depalma sr. Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13. Nat Genet. 2009. PMID: 19597493 Free PMC article.
Locus for familial migrainous vertigo disease maps to chromosome 5q35.
Bahmad F Jr, DePalma SR, Merchant SN, Bezerra RL, Oliveira CA, Seidman CE, Seidman JG. Bahmad F Jr, et al. Among authors: depalma sr. Ann Otol Rhinol Laryngol. 2009 Sep;118(9):670-6. doi: 10.1177/000348940911800912. Ann Otol Rhinol Laryngol. 2009. PMID: 19810609 Free PMC article.
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Lakdawala NK, et al. J Am Coll Cardiol. 2010 Jan 26;55(4):320-9. doi: 10.1016/j.jacc.2009.11.017. J Am Coll Cardiol. 2010. PMID: 20117437 Free PMC article.
56 results