L. Kühlewein

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

K. Stingl, M. Sturm, S. Ossowski, 2023, Journal of Medical Genetics.

Retest variability and patient reliability indices of quantitative fundus autofluorescence in age-related macular degeneration: a MACUSTAR study report

K. Sloan, E. Souied, C. Hoyng, 2023, Scientific reports.

Type 1 and type 2 torpedo maculopathy.

Jan-Philipp Bodenbender, L. Kühlewein, Annekatrin Rickmann, 2024, Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie.

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

V. Marino, D. Dell’Orco, N. Weisschuh, 2024, Scientific reports.

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

K. Stingl, Melanie Kempf, Karin Schäferhoff, 2023, Klinische Monatsblätter für Augenheilkunde.

Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom

J. von Schnurbein, M. Hansen, M. Wabitsch, 2024, Klinische Pädiatrie.