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

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.

dc.contributor.author	Weisschuh, Nicole
dc.contributor.author	Mazzola, Pascale
dc.contributor.author	Zuleger, Theresia
dc.contributor.author	Schäferhoff, Karin
dc.contributor.author	Kühlewein, Laura
dc.contributor.author	Kortüm, Friederike
dc.contributor.author	Witt, Dennis
dc.contributor.author	Liebmann, Alexandra
dc.contributor.author	Falb, Ruth
dc.contributor.author	Pohl, Lisa
dc.contributor.author	Reith, Milda
dc.contributor.author	Stühn, Lara G.
dc.contributor.author	Bertrand, Miriam
dc.contributor.author	Müller, Amelie Johanna
dc.contributor.author	Casadei, Nicolas
dc.contributor.author	Kelemen, Olga
dc.contributor.author	Kelbsch, Carina
dc.contributor.author	Kernstock, Christoph
dc.contributor.author	Richter, Paul
dc.contributor.author	Sadler, Francoise
dc.contributor.author	Demidov, German
dc.contributor.author	Schütz, Leon
dc.contributor.author	Admard, Jakob
dc.contributor.author	Sturm, Marc
dc.contributor.author	Grasshoff, Ute
dc.contributor.author	Tonagel, Felix
dc.contributor.author	Heinrich, Tilman
dc.contributor.author	Nasser, Fadi
dc.contributor.author	Wissinger, Bernd
dc.contributor.author	Ossowski, Stephan
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Riess, Olaf
dc.contributor.author	Stingl, Katarina
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2024-08-14T10:40:03Z
dc.date.available	2024-08-14T10:40:03Z
dc.date.issued	2024
dc.identifier.issn	0022-2593
dc.identifier.uri	http://hdl.handle.net/10900/156808
dc.language.iso	en	en
dc.publisher	London : Bmj Publishing Group	de_DE
dc.relation.uri	http://doi.org/10.1136/jmg-2023-109470
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240422000000_01437
utue.publikation.seiten	186-195	de_DE
utue.personen.roh	Weisschuh, Nicole
utue.personen.roh	Mazzola, Pascale
utue.personen.roh	Zuleger, Theresia
utue.personen.roh	Schaeferhoff, Karin
utue.personen.roh	Kuehlewein, Laura
utue.personen.roh	Kortuem, Friederike
utue.personen.roh	Witt, Dennis
utue.personen.roh	Liebmann, Alexandra
utue.personen.roh	Falb, Ruth
utue.personen.roh	Pohl, Lisa
utue.personen.roh	Reith, Milda
utue.personen.roh	Stuehn, Lara G.
utue.personen.roh	Bertrand, Miriam
utue.personen.roh	Mueller, Amelie
utue.personen.roh	Casadei, Nicolas
utue.personen.roh	Kelemen, Olga
utue.personen.roh	Kelbsch, Carina
utue.personen.roh	Kernstock, Christoph
utue.personen.roh	Richter, Paul
utue.personen.roh	Sadler, Francoise
utue.personen.roh	Demidov, German
utue.personen.roh	Schuetz, Leon
utue.personen.roh	Admard, Jakob
utue.personen.roh	Sturm, Marc
utue.personen.roh	Grasshoff, Ute
utue.personen.roh	Tonagel, Felix
utue.personen.roh	Heinrich, Tilman
utue.personen.roh	Nasser, Fadi
utue.personen.roh	Wissinger, Bernd
utue.personen.roh	Ossowski, Stephan
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Riess, Olaf
utue.personen.roh	Stingl, Katarina
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	Journal of Medical Genetics	de_DE
dcterms.isPartOf.ZS-Issue	2	de_DE
dcterms.isPartOf.ZS-Volume	61	de_DE
utue.fakultaet	Universität Tübingen (ohne Fakultätsangabe)
utue.fakultaet	04 Medizinische Fakultät
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät
utue.fakultaet	Sonstige