Lisa Roberts
7PUBLICATIONS
186CO-AUTHORS
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Publications (7)
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|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Dec 16, 2024
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.Nicole Midgley, George Rebello, Lara K Holtes
|Mar 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi
|Aug 23, 2020
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.Lisa Roberts, Stephanie Julius, Shrinav Dawlat
|Jul 19, 2020
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline.Jordi Maggi, Lisa Roberts, Samuel Koller
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Frequent Collaborators
4 joint publications
Raj Ramesar
3 joint publications
Sandro Banfi
3 joint publications
George Rebello
3 joint publications
Dror Sharon
3 joint publications
Lubica Dudakova
3 joint publications
Petra Liskova
3 joint publications
Marie Vajter
3 joint publications
Carmen Ayuso
3 joint publications
Chris F Inglehearn
3 joint publications
Monika Ołdak
