Estruch SB - Search Results

1

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family.

Carrion-Castillo A, Estruch SB, Maassen B, Franke B, Francks C, Fisher SE. Carrion-Castillo A, et al. Among authors: estruch sb. Hum Genet. 2021 Aug;140(8):1183-1200. doi: 10.1007/s00439-021-02289-w. Epub 2021 Jun 2. Hum Genet. 2021. PMID: 34076780 Free PMC article.

2

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME; DDD Study; Fisher SE, Logan DW. Dias C, et al. Among authors: estruch sb. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453576 Free PMC article.

3

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Estruch SB, Graham SA, Quevedo M, Vino A, Dekkers DHW, Deriziotis P, Sollis E, Demmers J, Poot RA, Fisher SE. Estruch SB, et al. Hum Mol Genet. 2018 Apr 1;27(7):1212-1227. doi: 10.1093/hmg/ddy035. Hum Mol Genet. 2018. PMID: 29365100

4

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Estruch SB, Graham SA, Quevedo M, Vino A, Dekkers DHW, Deriziotis P, Sollis E, Demmers J, Poot RA, Fisher SE. Estruch SB, et al. Hum Mol Genet. 2018 Jun 26. doi: 10.1093/hmg/ddy230. Online ahead of print. Hum Mol Genet. 2018. PMID: 29947777 No abstract available.

5

Estruch SB, Graham SA, Deriziotis P, Fisher SE. Estruch SB, et al. Sci Rep. 2016 Feb 12;6:20911. doi: 10.1038/srep20911. Sci Rep. 2016. PMID: 26867680 Free PMC article.

6

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

Estruch SB, Graham SA, Chinnappa SM, Deriziotis P, Fisher SE. Estruch SB, et al. J Neurodev Disord. 2016 Nov 28;8:44. doi: 10.1186/s11689-016-9177-2. eCollection 2016. J Neurodev Disord. 2016. PMID: 27933109 Free PMC article.

7

Functional characterization of TBR1 variants in neurodevelopmental disorder.

den Hoed J, Sollis E, Venselaar H, Estruch SB, Deriziotis P, Fisher SE. den Hoed J, et al. Among authors: estruch sb. Sci Rep. 2018 Sep 24;8(1):14279. doi: 10.1038/s41598-018-32053-6. Sci Rep. 2018. PMID: 30250039 Free PMC article.

8

Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer.

Deriziotis P, Graham SA, Estruch SB, Fisher SE. Deriziotis P, et al. Among authors: estruch sb. J Vis Exp. 2014 May 26;(87):51438. doi: 10.3791/51438. J Vis Exp. 2014. PMID: 24893771 Free PMC article.

9

De novo TBR1 mutations in sporadic autism disrupt protein functions.

Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE. Deriziotis P, et al. Among authors: estruch sb. Nat Commun. 2014 Sep 18;5:4954. doi: 10.1038/ncomms5954. Nat Commun. 2014. PMID: 25232744 Free PMC article.

10

The oncoprotein BCL11A binds to orphan nuclear receptor TLX and potentiates its transrepressive function.

Estruch SB, Buzón V, Carbó LR, Schorova L, Lüders J, Estébanez-Perpiñá E. Estruch SB, et al. PLoS One. 2012;7(6):e37963. doi: 10.1371/journal.pone.0037963. Epub 2012 Jun 4. PLoS One. 2012. PMID: 22675500 Free PMC article.

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