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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
1994 1
1997 1
1998 2
1999 2
2000 1
2002 3
2003 2
2004 3
2005 1
2006 2
2007 1
2008 1
2009 3
2010 2
2011 1
2012 2
2013 5
2014 4
2015 4
2016 5
2017 7
2018 5
2019 6
2020 4
2021 6
2022 4
2023 6
2024 1

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74 results

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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: twigg srf. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
New insights into craniofacial malformations.
Twigg SR, Wilkie AO. Twigg SR, et al. Hum Mol Genet. 2015 Oct 15;24(R1):R50-9. doi: 10.1093/hmg/ddv228. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085576 Free PMC article. Review.
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
Vogiatzi A, Keklikoglou K, Makris K, Argyrou DS, Zacharopoulos A, Sotiropoulou V, Parthenios N, Gkikas A, Kokkori M, Richardson MSW, Fenwick AL, Archontidi S, Arvanitidis C, Robertson J, Parthenios J, Zacharakis G, Twigg SRF, Wilkie AOM, Mavrothalassitis G. Vogiatzi A, et al. Among authors: twigg srf. Int J Mol Sci. 2023 Apr 27;24(9):7961. doi: 10.3390/ijms24097961. Int J Mol Sci. 2023. PMID: 37175668 Free PMC article.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM. Tooze RS, et al. Among authors: twigg srf. Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5. Genet Med. 2023. PMID: 37154149 Free article.
The developing mouse coronal suture at single-cell resolution.
Farmer DT, Mlcochova H, Zhou Y, Koelling N, Wang G, Ashley N, Bugacov H, Chen HJ, Parvez R, Tseng KC, Merrill AE, Maxson RE Jr, Wilkie AOM, Crump JG, Twigg SRF. Farmer DT, et al. Among authors: twigg srf. Nat Commun. 2021 Aug 10;12(1):4797. doi: 10.1038/s41467-021-24917-9. Nat Commun. 2021. PMID: 34376651 Free PMC article.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. Calpena E, et al. Among authors: twigg srf. Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499606 Free PMC article.
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR. Romanelli Tavares VL, et al. Among authors: twigg srf. J Med Genet. 2022 Sep;59(9):895-905. doi: 10.1136/jmedgenet-2021-107825. Epub 2021 Nov 8. J Med Genet. 2022. PMID: 34750192 Free PMC article.
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Calpena E, McGowan SJ, Blanco Kelly F, Boudry-Labis E, Dieux-Coeslier A, Harrison R, Johnson D, Lachlan K, Morton JEV, Stewart H, Vasudevan P; Genomics England Research Consortium; Twigg SRF, Wilkie AOM. Calpena E, et al. Among authors: twigg srf. Hum Mutat. 2021 Jul;42(7):811-817. doi: 10.1002/humu.24213. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33993607
74 results