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Elizabeth Sweeney

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Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Christopher Barton; Elizabeth Sweeney; Devender Roberts; Jo McPartland
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
Dagan Jenkins; Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luis Alonso; Daniela F Bueno; Dian Donnai; Dragana Josifova; Dragana Josifiova; Irene M J Mathijssen; Jenny E V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nurnberg; Maria Rita Passos-Bueno; Andrew O M Wilkie
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

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All Publications

2013: Vikram P Sharma; Elizabeth Sweeney; Susan E Tomkins; Stephen R F Twigg; Peter J van der Spek; Steven A Wall; Louise C Wilson; Sophia Bennett; Angela F Brady; Mia S Brockop; John Broxholme; Richard J Cornall; Aimée L Fenwick; Jacqueline A C Goos; A J M Hoogeboom; Nu Owase Jeelani; David Johnson; Alexander Kanapin; Sally Ann Lynch; Irene M J Mathijssen; Robert E Maxson; Simon J McGowan; John B Mulliken; Dylan J Murray; Julie M Phipps; Andrew O M Wilkie
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Nature genetics 2013;45(3):304-7.
2010: Christopher Barton; Elizabeth Sweeney; Devender Roberts; Jo McPartland
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
Clinical dysmorphology 2010;19(3):146-9.
2007: Dagan Jenkins; Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luis Alonso; Daniela F Bueno; Dian Donnai; Dragana Josifova; Dragana Josifiova; Irene M J Mathijssen; Jenny E V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nurnberg; Maria Rita Passos-Bueno; Andrew O M Wilkie
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
American journal of human genetics 2007;80(6):1162-70.
2007: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen V Firth; Mohammad Hassan Karimi-Nejad; Chong A Kim; Kathryn Leask; Melissa K Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; T J L de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; Louise C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics 2007;44(2):89-98.
2006: Claire Farrington-Rock; Marc H Firestein; Louise S Bicknell; andrea superti-furga; Carlos A Bacino; Valérie Cormier-Daire; Martine Le Merrer; Clarisse Baumann; Joelle Roume; Patrick Rump; Joke B G M Verheij; Elizabeth Sweeney; David L Rimoin; Ralph S Lachman; Stephen P Robertson; Daniel H Cohn; Deborah Krakow
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Human mutation 2006;27(7):705-10.
2006: Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A J M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
American journal of human genetics 2006;78(6):999-1010.
2005: Iain McIntosh; Jennifer A Dunston; L Liu; Julie E Hoover-Fong; Elizabeth Sweeney
Nail patella syndrome revisited: 50 years after linkage.
Annals of human genetics 2005;69(Pt 4):349-63.
2005: Jennifer A Dunston; Tyler Reimschisel; Yu-Qiang Ding; Elizabeth Sweeney; Randy L Johnson; Zhou-Feng Chen; Iain McIntosh
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
European journal of human genetics : EJHG 2005;13(3):330-5.
2004: Jennifer A Dunston; Jeanette D Hamlington; Jayshree Zaveri; Elizabeth Sweeney; Julie Sibbring; Catherine Tran; Maria Malbroux; John P O'Neill; Roger Mountford; Iain McIntosh
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
Genomics 2004;84(3):565-76.
2003: Elizabeth Sweeney; Alan Fryer; R Mountford; A Green; Iain McIntosh
Nail patella syndrome: a review of the phenotype aided by developmental biology.
Journal of medical genetics 2003;40(3):153-62.
2002: Elizabeth Sweeney; Alan Fryer; Dian Donnai
Sotos syndrome: two cases with severe scoliosis.
Clinical dysmorphology 2002;11(2):121-4.
2000: Elizabeth Sweeney; Alan Fryer; M Walters
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.
Clinical dysmorphology 2000;9(3):177-82.