Deutsch K, Klämbt V, Kitzler T, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, Desoky S, Kari J, Hafeez F, Szczepańska M, Eid L, Awad H, Al-Saffar M, Soliman N, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum L, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane S, Rodig N, Hildebrandt F. Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. Genes & Diseases 2023, 11: 101111. PMID: 38868576, PMCID: PMC11167256, DOI: 10.1016/j.gendis.2023.101111.Peer-Reviewed Original Research