Theresia Zuleger - Publications

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Journal: Ophthalmic genetics

Published: July 27, 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

Persistent diffuse photoreceptor disorganization: further evidence with potential associations, long-term clinical course and therapeutic responsiveness of a new clinical entity.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: February 22, 2026

Clinical manifestations of dual-gene variants in retinitis pigmentosa.

Journal: Acta ophthalmologica

Published: February 21, 2026

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Journal: Investigative ophthalmology & visual science

Published: September 23, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Journal: Research square

Published: May 19, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences

Published: January 20, 2025

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 20, 2024

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Journal: Scientific reports

Published: September 27, 2023

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Journal: Journal of medical genetics

Published: June 20, 2023