Theis JL - Search Results

1

Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity.

Birker K, Ge S, Kirkland NJ, Theis JL, Marchant J, Fogarty ZC, Missinato MA, Kalvakuri S, Grossfeld P, Engler AJ, Ocorr K, Nelson TJ, Colas AR, Olson TM, Vogler G, Bodmer R. Birker K, et al. Among authors: theis jl. Elife. 2023 Jul 5;12:e83385. doi: 10.7554/eLife.83385. Elife. 2023. PMID: 37404133 Free PMC article.

2

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.

Theis JL, Sharpe KM, Matsumoto ME, Chai HS, Nair AA, Theis JD, de Andrade M, Wieben ED, Michels VV, Olson TM. Theis JL, et al. Among authors: theis jd. Circ Cardiovasc Genet. 2011 Dec;4(6):585-94. doi: 10.1161/CIRCGENETICS.111.961052. Epub 2011 Sep 30. Circ Cardiovasc Genet. 2011. PMID: 21965549 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. 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

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. 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

5

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. Hum Genet. 2015 Sep;134(9):1003-11. doi: 10.1007/s00439-015-1582-1. Epub 2015 Jul 12. Hum Genet. 2015. PMID: 26164125

6

Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.

Long PA, Theis JL, Shih YH, Maleszewski JJ, Abell Aleff PC, Evans JM, Xu X, Olson TM. Long PA, et al. Among authors: theis jl. Hum Mol Genet. 2017 Aug 1;26(15):2874-2881. doi: 10.1093/hmg/ddx169. Hum Mol Genet. 2017. PMID: 28472305 Free PMC article.

7

Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection.

Turley TN, Theis JL, Sundsbak RS, Evans JM, O'Byrne MM, Gulati R, Tweet MS, Hayes SN, Olson TM. Turley TN, et al. Among authors: theis jl. Circ Genom Precis Med. 2019 Apr;12(4):e002437. doi: 10.1161/CIRCGEN.118.002437. Epub 2019 Mar 19. Circ Genom Precis Med. 2019. PMID: 30888838 Free PMC article.

8

Model system identification of novel congenital heart disease gene candidates: focus on RPL13.

Schroeder AM, Allahyari M, Vogler G, Missinato MA, Nielsen T, Yu MS, Theis JL, Larsen LA, Goyal P, Rosenfeld JA, Nelson TJ, Olson TM, Colas AR, Grossfeld P, Bodmer R. Schroeder AM, et al. Among authors: theis jl. Hum Mol Genet. 2019 Dec 1;28(23):3954-3969. doi: 10.1093/hmg/ddz213. Hum Mol Genet. 2019. PMID: 31625562 Free PMC article.

9

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.

Theis JL, Vogler G, Missinato MA, Li X, Nielsen T, Zeng XI, Martinez-Fernandez A, Walls SM, Kervadec A, Kezos JN, Birker K, Evans JM, O'Byrne MM, Fogarty ZC, Terzic A, Grossfeld P, Ocorr K, Nelson TJ, Olson TM, Colas AR, Bodmer R. Theis JL, et al. Elife. 2020 Oct 2;9:e59554. doi: 10.7554/eLife.59554. Elife. 2020. PMID: 33006316 Free PMC article.

10

Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.

Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, O'Leary PW, Olson TM. Theis JL, et al. Circ Genom Precis Med. 2021 Feb;14(1):e003126. doi: 10.1161/CIRCGEN.120.003126. Epub 2020 Dec 16. Circ Genom Precis Med. 2021. PMID: 33325730

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