Stephen R F Twigg
13PUBLICATIONS
31CO-AUTHORS
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Publications (13)
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|Nov 13, 2025
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.Yang Pei, Eduardo Calpena, Jill M Brown
|May 12, 2025
The Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting.N Funato, S R F Twigg
|Mar 18, 2025
The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.Stephen R F Twigg, Nicholas D E Greene, Deborah J Henderson
|Mar 03, 2025
BCL11B-related disease: a single phenotypic entity?J Heather Vedovato-Dos-Santos, Rebecca S Tooze, Sivagamy Sithambaram
|May 17, 2024
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.Isaac S Walton, Emma McCann, Astrid Weber
|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.Laura M Watts, Marta Bertoli, Tania Attie-Bitach
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Frequent Collaborators
8 joint publications
Andrew O M Wilkie
2 joint publications
Eduardo Calpena
2 joint publications
Rebecca S Tooze
1 joint publications
N Funato
1 joint publications
Tobias Schwerd
1 joint publications
Kerry A Miller
1 joint publications
Simon J McGowan
1 joint publications
Paul Bowness
1 joint publications
Alexandra F Freeman
1 joint publications
Yang Pei
