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Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH; DDD Study; Bejerano G, Bernstein JA, Chitayat D. Balasubramanian M, et al. Among authors: lord h. J Med Genet. 2017 Mar;54(3):157-165. doi: 10.1136/jmedgenet-2016-104143. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738187 Free article.
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Varvagiannis K, Stefanidou A, Gyftodimou Y, Lord H, Williams L, Sarri C, Pandelia E, Bazopoulou-Kyrkanidou E, Noakes C, Lester T, Wilkie AO, Petersen MB. Varvagiannis K, et al. Among authors: lord h. Am J Med Genet A. 2013 Feb;161A(2):343-51. doi: 10.1002/ajmg.a.35727. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307468
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO. Twigg SR, et al. Among authors: lord h. Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354439 Free PMC article.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO. Miller KA, et al. Among authors: lord h. J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24. J Med Genet. 2017. PMID: 27884935 Free PMC article.
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Kim S, Twigg SRF, Scanlon VA, Chandra A, Hansen TJ, Alsubait A, Fenwick AL, McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, Corsi AK. Kim S, et al. Among authors: lord h. Hum Mol Genet. 2017 Jun 1;26(11):2118-2132. doi: 10.1093/hmg/ddx107. Hum Mol Genet. 2017. PMID: 28369379 Free PMC article.
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC. Glass GE, et al. Among authors: lord h. Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073. Epub 2019 Feb 13. Am J Med Genet A. 2019. PMID: 30758909 Free PMC article.
128 results