Bhatia S - Search Results

1

Zebrafish: A Powerful Model for Understanding the Functional Relevance of Noncoding Region Mutations in Human Genetic Diseases.

Mann A, Bhatia S. Mann A, et al. Among authors: bhatia s. Biomedicines. 2019 Sep 16;7(3):71. doi: 10.3390/biomedicines7030071. Biomedicines. 2019. PMID: 31527394 Free PMC article. Review.

2

Quantitative spatial and temporal assessment of regulatory element activity in zebrafish.

Bhatia S, Kleinjan DJ, Uttley K, Mann A, Dellepiane N, Bickmore WA. Bhatia S, et al. Elife. 2021 Nov 19;10:e65601. doi: 10.7554/eLife.65601. Elife. 2021. PMID: 34796872 Free PMC article.

3

Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

Bhatia S, Kleinjan DA. Bhatia S, et al. Hum Genet. 2014 Jul;133(7):815-45. doi: 10.1007/s00439-014-1424-6. Epub 2014 Feb 5. Hum Genet. 2014. PMID: 24496500 Review.

4

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA. Bhatia S, et al. Am J Hum Genet. 2013 Dec 5;93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290376 Free PMC article. Review.

5

A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos.

Bhatia S, Monahan J, Ravi V, Gautier P, Murdoch E, Brenner S, van Heyningen V, Venkatesh B, Kleinjan DA. Bhatia S, et al. Dev Biol. 2014 Mar 15;387(2):214-28. doi: 10.1016/j.ydbio.2014.01.007. Epub 2014 Jan 17. Dev Biol. 2014. PMID: 24440152 Free article.

6

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.

Bhatia S, Gordon CT, Foster RG, Melin L, Abadie V, Baujat G, Vazquez MP, Amiel J, Lyonnet S, van Heyningen V, Kleinjan DA. Bhatia S, et al. PLoS Genet. 2015 Jun 1;11(6):e1005193. doi: 10.1371/journal.pgen.1005193. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26030420 Free PMC article.

7

SBE6: a novel long-range enhancer involved in driving sonic hedgehog expression in neural progenitor cells.

Benabdallah NS, Gautier P, Hekimoglu-Balkan B, Lettice LA, Bhatia S, Bickmore WA. Benabdallah NS, et al. Among authors: bhatia s. Open Biol. 2016 Nov;6(11):160197. doi: 10.1098/rsob.160197. Open Biol. 2016. PMID: 27852806 Free PMC article.

8

Unique activities of two overlapping PAX6 retinal enhancers.

Uttley K, Papanastasiou AS, Lahne M, Brisbane JM, MacDonald RB, Bickmore WA, Bhatia S. Uttley K, et al. Among authors: bhatia s. Life Sci Alliance. 2023 Aug 29;6(11):e202302126. doi: 10.26508/lsa.202302126. Print 2023 Nov. Life Sci Alliance. 2023. PMID: 37643867 Free PMC article.

9

Discovery and assessment of conserved Pax6 target genes and enhancers.

Coutinho P, Pavlou S, Bhatia S, Chalmers KJ, Kleinjan DA, van Heyningen V. Coutinho P, et al. Among authors: bhatia s. Genome Res. 2011 Aug;21(8):1349-59. doi: 10.1101/gr.124115.111. Epub 2011 May 26. Genome Res. 2011. PMID: 21617155 Free PMC article.

10

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR. Rainger JK, et al. Among authors: bhatia s. Hum Mol Genet. 2014 May 15;23(10):2569-79. doi: 10.1093/hmg/ddt647. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363063 Free PMC article.

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