1. A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. (4th March 2019) Authors: Peter, Virginie G.; Nikopoulos, Konstantinos; Quinodoz, Mathieu; Granse, Lotta; Farinelli, Pietro; Superti-Furga, Andrea; Andréasson, Sten; Rivolta, Carlo Journal: Ophthalmic genetics Issue: Volume 40:Number 2(2019) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Issue 2 (April 2020) Authors: Rehman, Atta Ur; Peter, Virginie G.; Quinodoz, Mathieu; Dawood, Muhammad; Rivolta, Carlo Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. (12th June 2020) Authors: Bedoni, Nicola; Quinodoz, Mathieu; Pinelli, Michele; Cappuccio, Gerarda; Torella, Annalaura; Nigro, Vincenzo; Testa, Francesco; Simonelli, Francesca; Corton, Marta; Lualdi, Susanna; Lanza, Federica; Morana, Giovanni; Ayuso, Carmen; Di Rocco, Maja; Filocamo, Mirella; Banfi, Sandro; Brunetti-Pierri... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Issue 3 (4th January 2021) Authors: Dentici, Maria Lisa; Alesi, Viola; Quinodoz, Mathieu; Robens, Barbara; Guerin, Andrea; Lebon, Sébastien; Poduri, Annapurna; Travaglini, Lorena; Graziola, Federica; Afenjar, Alexandra; Keren, Boris; Licursi, Valerio; Capuano, Alessandro; Dallapiccola, Bruno; Superti-Furga, Andrea; Novelli, Antonio Journal: Journal of medical genetics Issue: Volume 59:Issue 3(2022) Page Start: 262 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. 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) ↗
7. 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) ↗
8. New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Issue 3 (25th December 2020) Authors: Peter, Virginie G.; Quinodoz, Mathieu; Sadio, Silvia; Held, Sebastian; Rodrigues, Márcia; Soares, Marta; Sousa, Ana Berta; Coutinho Santos, Luisa; Damme, Markus; Rivolta, Carlo Journal: Human mutation Issue: Volume 42:Issue 3(2021) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene. Issue 6 (21st February 2021) Authors: Atallah, Isis; Quinodoz, Mathieu; Campos‐Xavier, Belinda; Peter, Virginie G.; Fouriki, Athina; Bonvin, Christophe; Bottani, Armand; Kumps, Camille; Angelini, Federica; Bellutti Enders, Felicitas; Christen‐Zaech, Stéphanie; Rizzi, Mattia; Renella, Raffaele; Beck‐Popovic, Maja; Poloni, Claudia; Fro... Journal: Clinical genetics Issue: Volume 99:Issue 6(2021) Page Start: 780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗