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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.
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.
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S. Gordon CT, et al. Among authors: bhatia s. Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606. Hum Mutat. 2014. PMID: 24934569 Free PMC article.
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
Bengani H, Grozeva D, Moyon L, Bhatia S, Louros SR, Hope J, Jackson A, Prendergast JG, Owen LJ, Naville M, Rainger J, Grimes G, Halachev M, Murphy LC, Spasic-Boskovic O, van Heyningen V, Kind P, Abbott CM, Osterweil E, Raymond FL, Roest Crollius H, FitzPatrick DR. Bengani H, et al. Among authors: bhatia s. PLoS One. 2021 Aug 13;16(8):e0256181. doi: 10.1371/journal.pone.0256181. eCollection 2021. PLoS One. 2021. PMID: 34388204 Free PMC article.
3,538 results