Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum
Lovgren, M.‐L., Zhou, Y., Hrčková, G., Dallos, T., Colmenero, I., Twigg, S.R.F., Moss, C.
Published in British journal of dermatology (1951) (01.01.2020)
Published in British journal of dermatology (1951) (01.01.2020)
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J
Published in European journal of human genetics : EJHG (01.08.2014)
Published in European journal of human genetics : EJHG (01.08.2014)
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Nucleotide sequence of a 55 kbp region from the right end of the genome of a pathogenic African swine fever virus isolate (Malawi LIL20/1)
Dixon, Linda K, Twigg, Stephen R. F, Baylis, Sally A, Vydelingum, Soopayah, Bristow, Christine, Hammond, Jef M, Smith, Geoffrey L
Published in Journal of general virology (01.07.1994)
Published in Journal of general virology (01.07.1994)
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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in Genetics in Medicine Open (01.09.2023)
Published in Genetics in Medicine Open (01.09.2023)
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Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Calpena, Eduardo, McGowan, Simon J., Blanco Kelly, Fiona, Boudry‐Labis, Elise, Dieux‐Coeslier, Anne, Harrison, Rachel, Johnson, Diana, Lachlan, Katherine, Morton, Jenny E. V., Stewart, Helen, Vasudevan, Pradeep, Twigg, Stephen R. F., Wilkie, Andrew O. M.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Three African swine fever virus genes encoding proteins with homology to putative helicases of vaccinia virus
Baylis, S.A, Twigg, S.R.F, Vydelingum, S, Dixon, L.K, Smith, G.L
Published in Journal of general virology (01.09.1993)
Published in Journal of general virology (01.09.1993)
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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
Wilkie, Andrew O.M, Tang, Zequn, Elanko, Navaratnam, Walsh, Sinead, Twigg, Stephen R.F, Hurst, Jane A, Wall, Steven A, Chrzanowska, Krystyna H, Maxson, Robert E
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome
Oldridge, Michael, Zackai, Elaine H., McDonald-McGinn, Donna M., Iseki, Sachiko, Morriss-Kay, Gillian M., Twigg, Stephen R.F., Johnson, David, Wall, Steven A., Jiang, Wen, Theda, Christiane, Jabs, Ethylin Wang, Wilkie, Andrew O.M.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1
Johnson, David, Horsley, Sharon W., Moloney, Dominique M., Oldridge, Michael, Twigg, Stephen R.F., Walsh, Sinead, Barrow, Margaret, Njølstad, Pål R., Kunz, Jürgen, Ashworth, Geraldine J., Wall, Steven A., Kearney, Lyndal, Wilkie, Andrew O.M.
Published in American journal of human genetics (01.11.1998)
Published in American journal of human genetics (01.11.1998)
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Expression analysis of an FGFR2 IIIc 5′ splice site mutation (1084+3A→G)
Kan, R, Twigg, S R F, Berg, J, Wang, L, Jin, F, Wilkie, A O M
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2
Oldridge, Michael, Lunt, Peter W., Zackai, Elaine H., McDonald-McGinn, Donna M., Muenke, Maximilian, Moloney, Dominique M., Twigg, Stephen R. F., Heath, John K., Howard, Timothy D., Hoganson, George, Gagnon, Deborah M., Jabs, Ethylin Wang, Wilkie, Andrew O. M.
Published in Human molecular genetics (01.01.1997)
Published in Human molecular genetics (01.01.1997)
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Conserved Use of a Non-Canonical 5′ Splice Site (/GA) in Alternative Splicing by Fibroblast Growth Factor Receptors 1, 2 and 3
Twigg, Stephen R. F., Burns, Helen D., Oldridge, Michael, Heath, John K., Wilkie, Andrew O. M.
Published in Human molecular genetics (01.04.1998)
Published in Human molecular genetics (01.04.1998)
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African swine fever virus genome content and variability
Dixon, L.K, Baylis, S.A, Vydelingum, S, Twigg, S.R.F, Hammond, J.M, Hingamp, P.M, Bristow, C, Wilkinson, P.J, Smith, G.L
Published in Archives of virology. Supplementum (1993)
Published in Archives of virology. Supplementum (1993)
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