Publications 2025

Williams, Katie M ; Berger, Wolfgang ; Koller, Samuel ; Pfiffner, Fatma Kivrak ; Maspoli, Alessandro ; Gloggnitzer, Jiradet ; Brühwiler, Britta V. T. ; Stathopoulos, Christina ; Munier, Francis ; Allen, Louise ; Iosifidis, Christos ; Black, Graeme C. ; Sergouniotis, Panagiotis I. ; Lloyd, Ian Christopher ; Gerth-Kahlert, Christina (2025).
The Phenotypic and Genotypic Features of ADAMTSL4 ‐Related Ocular Disease
PMID: 41243720, DOI: 10.1111/cge.70109, S2CID: 283069479. Clinical Genetics, (70109)01:12. Epub ahead of print.

Delas, Flora; Gloggnitzer, Jiradet; Maspoli, Alessandro; Kurmann, Lisa; Frueh, Beatrice E; Dacheva, Ivanka; Hildebrand, Darius; Berger, Wolfgang; Gerth-Kahlert, Christina (2025). 
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance–Horan Syndrome. 
PMID: 40868138, PMCID: PMC12383364, DOI: 10.3390/biomedicines13081883, S2CID: 280577738. Biomedicines, 13(8):1883.

Delas, Flora; Koller, Samuel; Maggi, Jordi; Maspoli, Alessandro; Kurmann, Lisa; Lang, Elena; Berger, Wolfgang; Gerth-Kahlert, Christina (2025). 
Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.  
PMID: 40650233, DOI: 10.3390/ijms26136454, S2CID: 280005176. International Journal of Molecular Sciences, 26(13):6455.

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; et al (2025). 
Variants in CFAP410 cause a range of retinal and skeletal phenotypes. 
PMID: 40246852, DOI: 10.1159/000545606, S2CID: 277885817. n p j Genomic Medicine, 10(1):32.

Foa, Nastasia; Pfau, Maximilian; Ansari, Georg; Cancian, Giuseppe; Grimaldi, Gabriela; Koller, Samuel; Berger, Wolfgang; Escher, Pascal; Janeschitz-Kriegl, Lucas; Rivolta, Carlo; Scholl, Hendrik P N; Menghini, Moreno (2025). 
Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype. 
PMID: 40168954, DOI: 10.1159/000545606, S2CID: 277495644. Ophthalmologica 248(3):175-184.

Maggi, Kevin (2025).
Investigating the Role of Norrin in Neuroretinal Development. 
DOI: 10.5167/uzh-276556. Dissertation (cumulative). University of Zurich, Faculty of Science. 2025.