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

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

Author: Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B.
Tübinger Autor(en):
Weisschuh, Nicole
Mazzola, Pascale
Zuleger, Theresia
Schäferhoff, Karin
Kühlewein, Laura
Kortüm, Friederike
Witt, Dennis
Liebmann, Alexandra
Falb, Ruth
Pohl, Lisa
Reith, Milda
Stühn, Lara G.
Bertrand, Miriam
Müller, Amelie Johanna
Casadei, Nicolas
Kelemen, Olga
Kelbsch, Carina
Kernstock, Christoph
Richter, Paul
Sadler, Francoise
Demidov, German
Schütz, Leon
Admard, Jakob
Sturm, Marc
Grasshoff, Ute
Tonagel, Felix
Heinrich, Tilman
Nasser, Fadi
Wissinger, Bernd
Ossowski, Stephan
Kohl, Susanne
Riess, Olaf
Stingl, Katarina
Haack, Tobias
Published in: Journal of Medical Genetics (2024), Bd. 61, H. 2, S. 186-195
Verlagsangabe: London : Bmj Publishing Group
Language: English
Full text: http://doi.org/10.1136/jmg-2023-109470
ISSN: 0022-2593
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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