1. A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome. (3rd September 2022) Authors: Ansar, Muhammad; Javed, Samra; Baig, Hafiz Muhammad Azhar; Quinodoz, Mathieu; Ullah, Mukhtar; Han, Ji Hoon; Rahim, Muhammad Usama; Kausar, Humera; Calzetti, Giacomo; Rivolta, Carlo Journal: Ophthalmic genetics Issue: Volume 43:Number 5(2022) Page Start: 720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. C.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Issue 1 (30th January 2022) Authors: Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P. N.; Rivolta, Carlo; Goldblum, David Journal: Cornea Issue: Volume 41:Issue 1(2022) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. C.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1. Issue 1 (January 2022) Authors: Janeschitz-Kriegl, Lucas; Kamdar, Dhryata; Quinodoz, Mathieu; Kaminska, Karolina; Folcher, Marc; György, Bence; Meyer, Peter; Wild, Andreas; Escher, Pascal; Scholl, Hendrik P. N.; Rivolta, Carlo; Goldblum, David Journal: Cornea Issue: Volume 41:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. Issue 4 (9th September 2022) Authors: Daich Varela, Malena; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P N; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Grae... Journal: Human molecular genetics Issue: Volume 32:Issue 4(2023) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Issue 12 (6th January 2022) Authors: Han, Ji Hoon; Ryan, Gavin; Guy, Alyson; Liu, Lu; Quinodoz, Mathieu; Helbling, Ingrid; Lai-Cheong, Joey E; Barwell, Julian; Folcher, Marc; McGrath, John A; Moss, Celia; Rivolta, Carlo Journal: Human molecular genetics Issue: Volume 31:Issue 12(2022) Page Start: 1970 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Issue 12 (7th November 2022) Authors: Peter, Virginie G.; Quinodoz, Mathieu; Sadio, Silvia; Held, Sebastian; Rodrigues, Márcia; Soares, Marta; Sousa, Ana Berta; Santos, Luisa Coutinho; Damme, Markus; Rivolta, Carlo Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗