Jefferies JL - Search Results

1

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.

Miszalski-Jamka K, Jefferies JL, Mazur W, Głowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Kłyś J, Venner E, Muzny DM, Rycaj J, Białkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN. Miszalski-Jamka K, et al. Among authors: jefferies jl. Circ Cardiovasc Genet. 2017 Aug;10(4):e001763. doi: 10.1161/CIRCGENETICS.117.001763. Circ Cardiovasc Genet. 2017. PMID: 28798025 Free PMC article.

2

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.

Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA. Jefferies JL, et al. Circulation. 2005 Nov 1;112(18):2799-804. doi: 10.1161/CIRCULATIONAHA.104.528281. Epub 2005 Oct 24. Circulation. 2005. PMID: 16246949

3

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. Jefferies JL, et al. Pediatr Cardiol. 2010 Jan;31(1):114-6. doi: 10.1007/s00246-009-9537-8. Epub 2009 Oct 1. Pediatr Cardiol. 2010. PMID: 19795160

4

Novel cardiac findings in periventricular nodular heterotopia.

Jefferies JL, Taylor MD, Rossano J, Belmont JW, Craigen WJ. Jefferies JL, et al. Am J Med Genet A. 2010 Jan;152A(1):165-8. doi: 10.1002/ajmg.a.33110. Am J Med Genet A. 2010. PMID: 20014127

5

Patterns of left ventricular remodeling in patients with Duchenne Muscular Dystrophy: a cardiac MRI study of ventricular geometry, global function, and strain.

Mazur W, Hor KN, Germann JT, Fleck RJ, Al-Khalidi HR, Wansapura JP, Chung ES, Taylor MD, Jefferies JL, Benson DW, Gottliebson WM. Mazur W, et al. Among authors: jefferies jl. Int J Cardiovasc Imaging. 2012 Jan;28(1):99-107. doi: 10.1007/s10554-010-9781-2. Epub 2011 Jan 8. Int J Cardiovasc Imaging. 2012. PMID: 21222036

6

Genetic disorders with both hearing loss and cardiovascular abnormalities.

Belmont JW, Craigen W, Martinez H, Jefferies JL. Belmont JW, et al. Among authors: jefferies jl. Adv Otorhinolaryngol. 2011;70:66-74. doi: 10.1159/000322474. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358187 Review.

7

Dilation of the aortic root in mitochondrial disease patients.

Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Brunetti-Pierri N, et al. Among authors: jefferies jl. Mol Genet Metab. 2011 Jun;103(2):167-70. doi: 10.1016/j.ymgme.2011.02.007. Epub 2011 Feb 18. Mol Genet Metab. 2011. PMID: 21406331

8

Left ventricular noncompaction in Sotos syndrome.

Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Martinez HR, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 May;155A(5):1115-8. doi: 10.1002/ajmg.a.33838. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484993

9

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA. Bainbridge MN, et al. Among authors: jefferies jl. Genome Biol. 2011 Jul 25;12(7):R68. doi: 10.1186/gb-2011-12-7-r68. Genome Biol. 2011. PMID: 21787409 Free PMC article.

10

Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.

Blinder JJ, Martinez HR, Craigen WJ, Belmont J, Pignatelli RH, Jefferies JL. Blinder JJ, et al. Among authors: jefferies jl. Am J Med Genet A. 2011 Sep;155A(9):2215-20. doi: 10.1002/ajmg.a.34129. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834050

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