Francesca Pasutto

7PUBLICATIONS
83CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsGene mappingGene expression (incl. microarray and other genome-wide approaches)Aerospace engineering not elsewhere classifiedOptical technology
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Publications (7)

|Aug 20, 2026
ClinGen Glaucoma Variant Curation Expert Panel recommendations enhance classification of myocilin variants.

|Aug 15, 2025
Functionally deficient UBOX5 variants and primary angle-closure glaucoma.

Zheng Li, Wee Ling Chng, Zhehao Liu

|Jun 29, 2023
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.

Xikun Han, Puya Gharahkhani, Andrew R Hamel

|Feb 25, 2021
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Puya Gharahkhani, Eric Jorgenson, Pirro Hysi

|Nov 24, 2020
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Emmanuelle Souzeau, Owen M Siggs, Francesca Pasutto

|Aug 04, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Lucia Mauri, Steffen Uebe, Heinrich Sticht

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Frequent Collaborators

3 joint publications

Terri L Young

3 joint publications

Anthony P Khawaja

3 joint publications

Alex W Hewitt

2 joint publications

Emmanuelle Souzeau