Tucker EJ - Search Results

1

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.

Jones SA, Cantsilieris S, Fan H, Cheng Q, Russ BE, Tucker EJ, Harris J, Rudloff I, Nold M, Northcott M, Dankers W, Toh AEJ, White SJ, Morand EF. Jones SA, et al. Among authors: tucker ej. Sci Rep. 2019 Oct 28;9(1):15433. doi: 10.1038/s41598-019-51864-9. Sci Rep. 2019. PMID: 31659207 Free PMC article. Clinical Trial.

2

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Among authors: tucker ej. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.

3

Recent advances in the genetics of mitochondrial encephalopathies.

Tucker EJ, Compton AG, Thorburn DR. Tucker EJ, et al. Curr Neurol Neurosci Rep. 2010 Jul;10(4):277-85. doi: 10.1007/s11910-010-0112-8. Curr Neurol Neurosci Rep. 2010. PMID: 20446063 Review.

4

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. Tucker EJ, et al. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587

5

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR. Tucker EJ, et al. Hum Mutat. 2012 Feb;33(2):411-8. doi: 10.1002/humu.21654. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22072591

6

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.

Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Lim SC, et al. Among authors: tucker ej. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28. Hum Mol Genet. 2013. PMID: 23814038 Free PMC article.

7

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Tucker EJ, Grover SR, Robevska G, van den Bergen J, Hanna C, Sinclair AH. Tucker EJ, et al. Eur J Hum Genet. 2018 Sep;26(9):1319-1328. doi: 10.1038/s41431-018-0140-4. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706645 Free PMC article.

8

Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.

Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker EJ, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Nakagawa R, et al. Among authors: tucker ej. Hum Mol Genet. 2022 Jul 7;31(13):2223-2235. doi: 10.1093/hmg/ddac023. Hum Mol Genet. 2022. PMID: 35134173

9

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.

Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Théard C, Touraine P, Robevska G, van van den Bergen J, Ayers KL, Sinclair AH, Dötsch V, Jaillard S. Tucker EJ, et al. Hum Mutat. 2022 Oct;43(10):1443-1453. doi: 10.1002/humu.24432. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35801529 Free PMC article.

10

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.

Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: tucker ej. Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9. Maturitas. 2020. PMID: 31787151

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