Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Boesch, Annemarie; Weiss, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Buehrer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schuelke, Markus; Hoa Huu Phuc Nguyen; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Muecke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, Andre; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schaefer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Oender, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Basin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Koerholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schroeck, Evelin; Heinen, Andre; Reuner, Ulrike; Hansske, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian

dc.contributor.author	Grundmann, Kathrin
dc.contributor.author	Kehrer, Martin
dc.contributor.author	Demidov, German
dc.contributor.author	Beck-Wödl, Stefanie
dc.contributor.author	Graessner, Holm
dc.contributor.author	Sturm, Marc
dc.contributor.author	Zeltner, Lena
dc.contributor.author	Schoels, Ludger
dc.contributor.author	Magg, Janine
dc.contributor.author	Bevot, Andrea
dc.contributor.author	Kehrer, Christiane
dc.contributor.author	Kaiser, Nadja
dc.contributor.author	Riess, Olaf
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2025-08-01T09:26:09Z
dc.date.available	2025-08-01T09:26:09Z
dc.date.issued	2024
dc.identifier.issn	1061-4036
dc.identifier.uri	http://hdl.handle.net/10900/168683
dc.language.iso	en	en
dc.publisher	Berlin : Nature Portfolio	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41588-024-01836-1
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250526000000_02242
utue.publikation.seiten	1644	de_DE
utue.personen.roh	Schmidt, Axel
utue.personen.roh	Danyel, Magdalena
utue.personen.roh	Grundmann, Kathrin
utue.personen.roh	Brunet, Theresa
utue.personen.roh	Klinkhammer, Hannah
utue.personen.roh	Hsieh, Tzung-Chien
utue.personen.roh	Engels, Hartmut
utue.personen.roh	Peters, Sophia
utue.personen.roh	Knaus, Alexej
utue.personen.roh	Moosa, Shahida
utue.personen.roh	Averdunk, Luisa
utue.personen.roh	Boschann, Felix
utue.personen.roh	Sczakiel, Henrike Lisa
utue.personen.roh	Schwartzmann, Sarina
utue.personen.roh	Mensah, Martin Atta
utue.personen.roh	Pantel, Jean Tori
utue.personen.roh	Holtgrewe, Manuel
utue.personen.roh	Boesch, Annemarie
utue.personen.roh	Weiss, Claudia
utue.personen.roh	Weinhold, Natalie
utue.personen.roh	Suter, Aude-Annick
utue.personen.roh	Stoltenburg, Corinna
utue.personen.roh	Neugebauer, Julia
utue.personen.roh	Kallinich, Tillmann
utue.personen.roh	Kaindl, Angela M.
utue.personen.roh	Holzhauer, Susanne
utue.personen.roh	Buehrer, Christoph
utue.personen.roh	Bufler, Philip
utue.personen.roh	Kornak, Uwe
utue.personen.roh	Ott, Claus-Eric
utue.personen.roh	Schuelke, Markus
utue.personen.roh	Hoa Huu Phuc Nguyen
utue.personen.roh	Hoffjan, Sabine
utue.personen.roh	Grasemann, Corinna
utue.personen.roh	Rothoeft, Tobias
utue.personen.roh	Brinkmann, Folke
utue.personen.roh	Matar, Nora
utue.personen.roh	Sivalingam, Sugirthan
utue.personen.roh	Perne, Claudia
utue.personen.roh	Mangold, Elisabeth
utue.personen.roh	Kreiss, Martina
utue.personen.roh	Cremer, Kirsten
utue.personen.roh	Betz, Regina C.
utue.personen.roh	Muecke, Martin
utue.personen.roh	Grigull, Lorenz
utue.personen.roh	Klockgether, Thomas
utue.personen.roh	Spier, Isabel
utue.personen.roh	Heimbach, Andre
utue.personen.roh	Bender, Tim
utue.personen.roh	Brand, Fabian
utue.personen.roh	Stieber, Christiane
utue.personen.roh	Morawiec, Alexandra Marzena
utue.personen.roh	Karakostas, Pantelis
utue.personen.roh	Schaefer, Valentin S.
utue.personen.roh	Bernsen, Sarah
utue.personen.roh	Weydt, Patrick
utue.personen.roh	Castro-Gomez, Sergio
utue.personen.roh	Aziz, Ahmad
utue.personen.roh	Grobe-Einsler, Marcus
utue.personen.roh	Kimmich, Okka
utue.personen.roh	Kobeleva, Xenia
utue.personen.roh	Oender, Demet
utue.personen.roh	Lesmann, Hellen
utue.personen.roh	Kumar, Sheetal
utue.personen.roh	Tacik, Pawel
utue.personen.roh	Basin, Meghna Ahuja
utue.personen.roh	Incardona, Pietro
utue.personen.roh	Lee-Kirsch, Min Ae
utue.personen.roh	Berner, Reinhard
utue.personen.roh	Schuetz, Catharina
utue.personen.roh	Koerholz, Julia
utue.personen.roh	Kretschmer, Tanita
utue.personen.roh	Di Donato, Nataliya
utue.personen.roh	Schroeck, Evelin
utue.personen.roh	Heinen, Andre
utue.personen.roh	Reuner, Ulrike
utue.personen.roh	Hansske, Amalia-Mihaela
utue.personen.roh	Kaiser, Frank J.
utue.personen.roh	Manka, Eva
utue.personen.roh	Munteanu, Martin
utue.personen.roh	Kuechler, Alma
utue.personen.roh	Cordula, Kiewert
utue.personen.roh	Hirtz, Raphael
utue.personen.roh	Schlapakow, Elena
utue.personen.roh	Schlein, Christian
utue.personen.roh	Lisfeld, Jasmin
utue.personen.roh	Kubisch, Christian
utue.personen.roh	Herget, Theresia
utue.personen.roh	Hempel, Maja
utue.personen.roh	Weiler-Normann, Christina
utue.personen.roh	Ullrich, Kurt
utue.personen.roh	Schramm, Christoph
utue.personen.roh	Rudolph, Cornelia
utue.personen.roh	Rillig, Franziska
utue.personen.roh	Groffmann, Maximilian
utue.personen.roh	Muntau, Ania
utue.personen.roh	Tibelius, Alexandra
utue.personen.roh	Schwaibold, Eva M. C.
utue.personen.roh	Schaaf, Christian P.
utue.personen.roh	Zawada, Michal
utue.personen.roh	Kaufmann, Lilian
dcterms.isPartOf.ZSTitelID	Nature Genetics	de_DE
dcterms.isPartOf.ZS-Issue	8	de_DE
dcterms.isPartOf.ZS-Volume	56	de_DE
utue.fakultaet	04 Medizinische Fakultät