Twigg SRF - Search Results

1

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV, McCann E, Weber A, Wilson LC, Douglas AGL, McGowan R, Need A, Bond A, Tavares ALT, Thomas ERA; Genomics England Research Consortium; Hill SL, Deans ZC, Boardman-Pretty F, Caulfield M, Scott RH, Wilkie AOM. Hyder Z, et al. Among authors: twigg srf. Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25. Genet Med. 2021. PMID: 34429528 Free PMC article.

2

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

Twigg SR, Burns HD, Oldridge M, Heath JK, Wilkie AO. Twigg SR, et al. Hum Mol Genet. 1998 Apr;7(4):685-91. doi: 10.1093/hmg/7.4.685. Hum Mol Genet. 1998. PMID: 9499422

3

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njølstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO. Johnson D, et al. Am J Hum Genet. 1998 Nov;63(5):1282-93. doi: 10.1086/302122. Am J Hum Genet. 1998. PMID: 9792856 Free PMC article.

4

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. Oldridge M, et al. Am J Hum Genet. 1999 Feb;64(2):446-61. doi: 10.1086/302245. Am J Hum Genet. 1999. PMID: 9973282 Free PMC article.

5

Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis.

Twigg SR, Wilkie AO. Twigg SR, et al. Hum Genet. 1999 Oct;105(4):320-6. doi: 10.1007/s004399900143. Hum Genet. 1999. PMID: 10543399

6

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification.

Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. Wilkie AO, et al. Nat Genet. 2000 Apr;24(4):387-90. doi: 10.1038/74224. Nat Genet. 2000. PMID: 10742103

7

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Kan SH, et al. Am J Hum Genet. 2002 Feb;70(2):472-86. doi: 10.1086/338758. Epub 2002 Jan 4. Am J Hum Genet. 2002. PMID: 11781872 Free PMC article.

8

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Robertson SP, et al. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612583

9

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics.

Hajihosseini MK, Lalioti MD, Arthaud S, Burgar HR, Brown JM, Twigg SR, Wilkie AO, Heath JK. Hajihosseini MK, et al. Development. 2004 Jan;131(2):325-35. doi: 10.1242/dev.00940. Epub 2003 Dec 10. Development. 2004. PMID: 14668415

10

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO. Twigg SR, et al. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. doi: 10.1073/pnas.0402819101. Epub 2004 May 27. Proc Natl Acad Sci U S A. 2004. PMID: 15166289 Free PMC article.

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