Diagnostic Genome Sequencing Improves Diagnostic Yield: a Prospective Single-Centre Study in 1000 Patients with Inherited Eye Diseases.
Nicole Weisschuh,Pascale Mazzola,Theresia Zuleger,Karin Schaeferhoff,Laura Kuehlewein,Friederike Kortuem,Dennis Witt,Alexandra Liebmann,Ruth Falb,Lisa Pohl,Milda Reith,Lara G. Stuehn,Miriam Bertrand,Amelie Mueller,Nicolas Casadei,Olga Kelemen,Carina Kelbsch,Christoph Kernstock,Paul Richter,Francoise Sadler,German Demidov,Leon Schuetz,Jakob Admard,Marc Sturm,Ute Grasshoff,Felix Tonagel,Tilman Heinrich,Fadi Nasser,Bernd Wissinger,Stephan Ossowski,Susanne Kohl,Olaf Riess,Katarina Stingl,Tobias B. Haack JOURNAL OF MEDICAL GENETICS（2024）
Key words
molecular diagnostic techniques,eye diseases,RNA-seq,genomics
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