Stephen R F Twigg

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 13

Top Topics

Intellectual Disability

Bioinformatics Analysis

Top Venues

European journal of human genetics : EJHG

Journal of anatomy

This page only lists publications with an associated author ORCID identifier.

Publications

Isaac Scott Walton, Emma McCann, Astrid Weber, Jenny E V Morton, Peter Noons, Louise C Wilson, Rosanna C Ching, Deirdre Cilliers, David Johnson, Julie M Phipps, Deborah J Shears, Gregory P L Thomas, Steven A Wall, Stephen R F Twigg, Andrew O M Wilkie
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis. Journal of anatomy (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Laura M Watts, Marta Bertoli, Tania Attie-Bitach, Natalie Roux, Antonio Rausell, Catherine Paschal, Jessica L Zambonin, Cynthia J Curry, Blanche Martin, Rebecca S Tooze, Lara Hawkes, Usha Kini, Stephen R F Twigg, Andrew O M Wilkie
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. European journal of human genetics : EJHG 32 (7) (2024)
Rebecca S Tooze, Eduardo Calpena, Astrid Weber, Louise C Wilson, Stephen R F Twigg, Andrew O M Wilkie
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 14 (3) (2023)
Rebecca S Tooze, Eduardo Calpena, Astrid Weber, Louise C Wilson, Stephen R F Twigg, Andrew O M Wilkie
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 14 (3) (2023)
Rebecca S Tooze, Eduardo Calpena, Astrid Weber, Louise C Wilson, Stephen R F Twigg, Andrew O M Wilkie
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels. Genes 14 (3) (2023)
D'Juan T Farmer, Hana Mlcochova, Yan Zhou, Nils Koelling, Guanlin Wang, Neil Ashley, Helena Bugacov, Hung-Jhen Chen, Riana Parvez, Kuo-Chang Tseng, Amy E Merrill, Robert E Maxson, Andrew O M Wilkie, J Gage Crump, Stephen R F Twigg
The developing mouse coronal suture at single-cell resolution. Nature communications 12 (1) (2021)
Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, Henk Buermans, Renato S Freitas, Johan T Den Dunnen, Stephen R F Twigg, Maria Rita Passos-Bueno
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of medical genetics (2021)
Yan Zhou, Nils Koelling, Aimée L Fenwick, Simon J McGowan, Eduardo Calpena, Steven A Wall, Sarah F Smithson, Andrew O M Wilkie, Stephen R F Twigg
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome. Human mutation 39 (10) (2018)
Tobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Indira B Taylor, Melania Capitani, Simon J McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F Freeman, Joshua D Milner, Steven M Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, Bodo Grimbacher, Steven A Wall, Edith Yvonne Jones, Andrew O M Wilkie, Hans Holm Uhlig
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. The Journal of experimental medicine 214 (9) (2017)