Owen Siggs
16PUBLICATIONS
147CO-AUTHORS
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Publications (16)
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|Mar 27, 2026
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome.Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau
|Jun 12, 2025
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.Lucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau
|Apr 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.Hope A Tanudisastro, Anna S E Cuomo, Ben Weisburd
|Mar 05, 2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.Alexandra Butters, Kate Thomson, Franki Harrington
|Dec 13, 2023
The landscape of genomic structural variation in Indigenous Australians.Andre L M Reis, Melissa Rapadas, Jillian M Hammond
|Sep 07, 2023
Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.Samuel White, Ajay Taranath, Prasad Hanagandi
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Frequent Collaborators
5 joint publications
Emmanuelle Souzeau
5 joint publications
Alex W Hewitt
4 joint publications
Puya Gharahkhani
3 joint publications
Jue-Sheng Ong
3 joint publications
Stuart MacGregor
3 joint publications
Matthew H Law
3 joint publications
Kathryn P Burdon
3 joint publications
Jessica N Cooke Bailey
2 joint publications
Jae H Kang
2 joint publications
Louis R Pasquale
