SM-Youtube

1

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Garcia CC, et al. Among authors: blair hj. J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680. J Med Genet. 2004. PMID: 14985377 Free PMC article.

2

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Ruiz-Perez VL, et al. Among authors: blair hj. Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4. Am J Hum Genet. 2003. PMID: 12571802 Free PMC article.

3

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA. Tompson SW, et al. Among authors: blair hj. Hum Genet. 2007 Jan;120(5):663-70. doi: 10.1007/s00439-006-0237-7. Epub 2006 Sep 21. Hum Genet. 2007. PMID: 17024374

4

Evc regulates a symmetrical response to Shh signaling in molar development.

Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, MacArthur K, Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA, Peters H. Nakatomi M, et al. Among authors: blair hj. J Dent Res. 2013 Mar;92(3):222-8. doi: 10.1177/0022034512471826. Epub 2013 Jan 11. J Dent Res. 2013. PMID: 23315474

5

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.

Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA. Blair HJ, et al. BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14. BMC Biol. 2011. PMID: 21356043 Free PMC article.

6

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.

Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA. Ruiz-Perez VL, et al. Among authors: blair hj. Development. 2007 Aug;134(16):2903-12. doi: 10.1242/dev.007542. Development. 2007. PMID: 17660199 Free article.

7

Encyclopedia of the mouse genome V. Mouse X chromosome.

Herman GE, Blair HJ, Boyd SD, de Gouyon B, Haynes A, Quaderi N. Herman GE, et al. Among authors: blair hj. Mamm Genome. 1996;6 Spec No:S317-30. Mamm Genome. 1996. PMID: 8800776 No abstract available.

8

Subtype-specific regulatory network rewiring in acute myeloid leukemia.

Assi SA, Imperato MR, Coleman DJL, Pickin A, Potluri S, Ptasinska A, Chin PS, Blair H, Cauchy P, James SR, Zacarias-Cabeza J, Gilding LN, Beggs A, Clokie S, Loke JC, Jenkin P, Uddin A, Delwel R, Richards SJ, Raghavan M, Griffiths MJ, Heidenreich O, Cockerill PN, Bonifer C. Assi SA, et al. Nat Genet. 2019 Jan;51(1):151-162. doi: 10.1038/s41588-018-0270-1. Epub 2018 Nov 12. Nat Genet. 2019. PMID: 30420649 Free PMC article.

9

Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis.

Blair HJ, Gormally E, Uwechue IC, Boyd Y. Blair HJ, et al. Hum Mol Genet. 1998 Mar;7(3):549-55. doi: 10.1093/hmg/7.3.549. Hum Mol Genet. 1998. PMID: 9467016

10

Encyclopedia of the mouse genome VII. Mouse chromosome X.

Boyd Y, Blair HJ, Cunliffe P, Denny P, Gormally E, Herman GE. Boyd Y, et al. Among authors: blair hj. Mamm Genome. 1998;8 Spec No:S361-77. doi: 10.1007/s003359900665. Mamm Genome. 1998. PMID: 9662637 No abstract available.

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