Kaylie Jones
5PUBLICATIONS
192CO-AUTHORS
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Publications (5)
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|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Jan 07, 2025
Phosphoribosyl pyrophosphate synthetase 1 (<i>PRPS1</i>) associated retinal degeneration: an international study.Ogul E Uner, Radwa Elsharawi, Margaret Reynolds
|Mar 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.Maria Solaki, Britta Baumann, Peggy Reuter
|Jan 19, 2021
Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene <i>CNGB1</i>.Bojana Radojevic, Kaylie Jones, Martin Klein
|May 23, 2020
A novel SVA retrotransposon insertion in the <i>CHM</i> gene results in loss of REP-1 causing choroideremia.Kaylie D Jones, Alina Radziwon, David G Birch
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Frequent Collaborators
3 joint publications
David G Birch
2 joint publications
Susanne Kohl
2 joint publications
Juliana Maria Ferraz Sallum
2 joint publications
Bernd Wissinger
2 joint publications
Tina M Lamey
2 joint publications
Petra Liskova
2 joint publications
Ulrich Kellner
1 joint publications
Lea D Bennett
1 joint publications
Isabelle Audo
1 joint publications
Ghassan Balousha
