Evans JM - Search Results

1

Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.

Theis JL, Hrstka SC, Evans JM, O'Byrne MM, de Andrade M, O'Leary PW, Nelson TJ, Olson TM. Theis JL, et al. Among authors: evans jm. Hum Genet. 2015 Sep;134(9):1003-11. doi: 10.1007/s00439-015-1582-1. Epub 2015 Jul 12. Hum Genet. 2015. PMID: 26164125

2

Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ. Boczek NJ, et al. Among authors: evans jm. Circ Cardiovasc Genet. 2013 Jun;6(3):279-89. doi: 10.1161/CIRCGENETICS.113.000138. Circ Cardiovasc Genet. 2013. PMID: 23677916 Free PMC article.

3

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM. Theis JL, et al. Among authors: evans jm. Hum Mol Genet. 2014 Nov 1;23(21):5793-804. doi: 10.1093/hmg/ddu297. Epub 2014 Jun 11. Hum Mol Genet. 2014. PMID: 24925317 Free PMC article.

4

Characterizing genetic variation of adrenergic signalling pathways in Takotsubo (stress) cardiomyopathy exomes.

Goodloe AH, Evans JM, Middha S, Prasad A, Olson TM. Goodloe AH, et al. Among authors: evans jm. Eur J Heart Fail. 2014 Sep;16(9):942-9. doi: 10.1002/ejhf.145. Epub 2014 Aug 8. Eur J Heart Fail. 2014. PMID: 25132214 Free article.

5

Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy.

Long PA, Evans JM, Olson TM. Long PA, et al. Among authors: evans jm. Am J Med Genet A. 2015 Apr;167A(4):886-90. doi: 10.1002/ajmg.a.36994. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706677 Free PMC article.

6

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

Altmann HM, Tester DJ, Will ML, Middha S, Evans JM, Eckloff BW, Ackerman MJ. Altmann HM, et al. Among authors: evans jm. Circulation. 2015 Jun 9;131(23):2051-60. doi: 10.1161/CIRCULATIONAHA.115.015397. Epub 2015 Apr 28. Circulation. 2015. PMID: 25922419

7

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.

Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O'Leary PW, Olson TM. Theis JL, et al. Among authors: evans jm. Circ Cardiovasc Genet. 2015 Aug;8(4):564-71. doi: 10.1161/CIRCGENETICS.115.001070. Epub 2015 Jun 17. Circ Cardiovasc Genet. 2015. PMID: 26085007

8

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

Long PA, Larsen BT, Evans JM, Olson TM. Long PA, et al. Among authors: evans jm. J Am Heart Assoc. 2015 Dec 9;4(12):e002443. doi: 10.1161/JAHA.115.002443. J Am Heart Assoc. 2015. PMID: 26656454 Free PMC article.

9

De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.

Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM. Long PA, et al. Among authors: evans jm. Hum Genet. 2016 Aug;135(8):909-917. doi: 10.1007/s00439-016-1685-3. Epub 2016 May 27. Hum Genet. 2016. PMID: 27234373 Free PMC article.

10

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.

Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ. Perales-Clemente E, et al. Among authors: evans jm. EMBO J. 2016 Sep 15;35(18):1979-90. doi: 10.15252/embj.201694892. Epub 2016 Jul 19. EMBO J. 2016. PMID: 27436875 Free PMC article.

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