1. Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration. (March 2014) Authors: Mantel, Irmela; Ambresin, Aude; Moetteli, Leila; Droz, Ivaine; Roduit, Raphaël; Munier, Francis L.; Schorderet, Daniel F. Journal: Ophthalmic genetics Issue: Volume 35:Number 1(2014:Mar.) Page Start: 12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CRX-linked macular dystrophy with intrafamilial variable expressivity. (3rd September 2018) Authors: Romdhane, Khaled; Vaclavik, Veronika; Schorderet, Daniel F.; Munier, Francis L.; Viet Tran, H. Journal: Ophthalmic genetics Issue: Volume 39:Number 5(2018) Page Start: 637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Differential Dimerization of Variants Linked to Enhanced S‐Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand‐Binding Domain. Issue 6 (27th April 2015) Authors: von Alpen, Désirée; Tran, Hoai Viet; Guex, Nicolas; Venturini, Giulia; Munier, Francis L.; Schorderet, Daniel F.; Haider, Neena B.; Escher, Pascal Journal: Human mutation Issue: Volume 36:Issue 6(2015:Jun.) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. (3rd June 2014) Authors: Lechner, Judith; Porter, Louise F.; Rice, Aine; Vitart, Veronique; Armstrong, David J.; Schorderet, Daniel F.; Munier, Francis L.; Wright, Alan F.; Inglehearn, Chris F.; Black, Graeme C.; Simpson, David A.; Manson, Forbes; Willoughby, Colin E. Journal: Human molecular genetics Issue: Volume 23:Number 20(2014:Oct. 15) Page Start: 5527 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa. (3rd September 2017) Authors: Habibi, Imen; Chebil, Ahmed; Kort, Fedra; Schorderet, Daniel F.; El Matri, Leila Journal: Ophthalmic genetics Issue: Volume 38:Number 5(2017) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies. (26th December 2012) Authors: Schorderet, Daniel F.; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal Other Names: Toruner Gokce A. Academic Editor. Journal: BioMed research international Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Metabolic and functional changes in retinitis pigmentosa: comparing retinal vessel oximetry to full‐field electroretinography, electrooculogram and multifocal electroretinography. (22nd October 2015) Authors: Todorova, Margarita G.; Türksever, Cengiz; Schötzau, Andreas; Schorderet, Daniel F.; Valmaggia, Christophe Journal: Acta ophthalmologica Issue: Volume 94:Number 3(2016) Page Start: e231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies. Issue 6 (28th March 2019) Authors: Kheir, Valeria; Cortés‐González, Vianney; Zenteno, Juan C.; Schorderet, Daniel F. Journal: Human mutation Issue: Volume 40:Issue 6(2019) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families. Issue 8 (3rd June 2014) Authors: Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L.; Schorderet, Daniel F. Journal: Human mutation Issue: Volume 35:Issue 8(2014:Aug.) Page Start: 949 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation. (7th April 2014) Authors: Sarode, Bhushan; Nowell, Craig S.; Ihm, JongEun; Kostic, Corinne; Arsenijevic, Yvan; Moulin, Alexandre P.; Schorderet, Daniel F.; Beermann, Friedrich; Radtke, Freddy Journal: Pigment cell & melanoma research Issue: Volume 27:Number 4(2014:Jul.) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗