S
Saskia B. Wortmann
Researcher at Paracelsus Private Medical University of Salzburg
Publications - 181
Citations - 4934
Saskia B. Wortmann is an academic researcher from Paracelsus Private Medical University of Salzburg. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 34, co-authored 153 publications receiving 3467 citations. Previous affiliations of Saskia B. Wortmann include Helmholtz Zentrum München & RWTH Aachen University.
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Journal ArticleDOI
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
Kornelia Neveling,Ilse Feenstra,Christian Gilissen,Lies H. Hoefsloot,Erik-Jan Kamsteeg,Arjen R. Mensenkamp,Richard J. Rodenburg,Helger G. Yntema,Liesbeth Spruijt,Sascha Vermeer,Tuula Rinne,Koen L.I. van Gassen,Danielle Bodmer,Dorien Lugtenberg,Rick de Reuver,Wendy Buijsman,Ronny Derks,Nienke Wieskamp,Bert van den Heuvel,Marjolijn J. L. Ligtenberg,Hannie Kremer,David A. Koolen,Bart P.C. van de Warrenburg,Frans P.M. Cremers,Carlo Marcelis,Jan A.M. Smeitink,Saskia B. Wortmann,Wendy A. G. van Zelst-Stams,Joris A. Veltman,Han G. Brunner,Hans Scheffer,Marcel R. Nelen +31 more
TL;DR: It is found that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders, and for microsatellite‐stable colorectal cancer, this was low under both strategies.
Journal ArticleDOI
Whole exome sequencing of suspected mitochondrial patients in clinical practice
Saskia B. Wortmann,David A. Koolen,Jan A.M. Smeitink,Lambert P. van den Heuvel,Richard J. Rodenburg +4 more
TL;DR: The results show that WES technology has been successfully implemented as a state-of-the-art, molecular diagnostic test for mitochondrial disorders as well as for the mimicking disorders in daily clinical practice and illustrates that clinical and biochemical phenotyping is essential for successful application of WES to diagnose individual patients.
Journal ArticleDOI
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Saskia B. Wortmann,Frédéric M. Vaz,Thatjana Gardeitchik,Lisenka E.L.M. Vissers,G. Herma Renkema,Janneke H M Schuurs-Hoeijmakers,Wim Kulik,Martin Lammens,Christin Christin,Leo A. J. Kluijtmans,Richard J. Rodenburg,Leo G.J. Nijtmans,Anne Grünewald,Christine Klein,Joachim M. Gerhold,Tamas Kozicz,Peter M. van Hasselt,Magdalena Harakalova,Wigard P. Kloosterman,Ivo Barić,Ewa Pronicka,Sema Kalkan Uçar,Karin Naess,Kapil K Singhal,Zita Krumina,Christian Gilissen,Hans van Bokhoven,Joris A. Veltman,Jan A.M. Smeitink,Dirk Lefeber,Johannes N. Spelbrink,Johannes N. Spelbrink,Ron A. Wevers,Eva Morava,Arjan P.M. de Brouwer +34 more
TL;DR: Using exome sequencing, SERAC1 mutations are identified as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria.
Journal ArticleDOI
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Karlien L.M. Coene,Leo A. J. Kluijtmans,Ed van der Heeft,Udo F. H. Engelke,Siebolt de Boer,Brechtje Hoegen,Hanneke J. T. Kwast,Maartje van de Vorst,Marleen C. D. G. Huigen,Irene M. L. W. Keularts,Michiel F. Schreuder,Clara D.M. van Karnebeek,Saskia B. Wortmann,Maaike de Vries,Mirian C. H. Janssen,Mirian C. H. Janssen,Christian Gilissen,Jasper Engel,Ron A. Wevers +18 more
TL;DR: A single-platform, high-resolution liquid chromatography quadrupole time of flight (LC-QTOF) method that can be applied for holistic metabolic profiling in plasma of individual IEM-suspected patients and is convinced that NGMS is the way forward in laboratory diagnostics of IEMs.
Journal ArticleDOI
Monogenic variants in dystonia: an exome-wide sequencing study.
Michael Zech,Robert Jech,Sylvia Boesch,Matej Skorvanek,Sandrina Weber,Matias Wagner,Chen Zhao,Angela Jochim,Ján Necpál,Yasemin Dincer,Katharina Vill,Felix Distelmaier,Malgorzata Stoklosa,Martin Krenn,Martin Krenn,Stephan Grunwald,Stephan Grunwald,Tobias Bock-Bierbaum,Tobias Bock-Bierbaum,Anna Fečíková,Petra Havránková,Jan Roth,Iva Příhodová,Miriam Adamovičová,Olga Ulmanová,Karel Bechyně,Pavlína Danhofer,Branislav Veselý,Vladimír Haň,Petra Pavelekova,Zuzana Gdovinova,Tobias Mantel,Tobias Meindl,Alexandra Sitzberger,Sebastian Schröder,Astrid Blaschek,Timo Roser,Michaela Bonfert,Edda Haberlandt,Barbara Plecko,Birgit Leineweber,Steffen Berweck,Thomas Herberhold,Berthold Langguth,Jana Švantnerová,Michal Minár,Gonzalo Alonso Ramos-Rivera,Monica H. Wojcik,Monica H. Wojcik,Sander Pajusalu,Sander Pajusalu,Sander Pajusalu,Katrin Õunap,Katrin Õunap,Ulrich A. Schatz,Laura Pölsler,Ivan Milenkovic,Franco Laccone,Veronika Pilshofer,Roberto Colombo,Steffi Patzer,Arcangela Iuso,Julia Vera,Mónica Troncoso,Fang Fang,Holger Prokisch,Friederike Wilbert,Matthias Eckenweiler,Elisabeth Graf,Dominik S. Westphal,Korbinian M. Riedhammer,Theresa Brunet,Bader Alhaddad,Riccardo Berutti,Tim M. Strom,Martin Hecht,Matthias Baumann,Marc E. Wolf,Aida Telegrafi,Richard E. Person,Francisca Millan Zamora,Lindsay B. Henderson,David Weise,Thomas Musacchio,Jens Volkmann,Anna Szuto,Jessica Becker,Kirsten Cremer,Thomas Sycha,Fritz Zimprich,V. Kraus,Christine Makowski,Pedro Gonzalez-Alegre,Tanya Bardakjian,Laurie J. Ozelius,Annalisa Vetro,Renzo Guerrini,Esther M. Maier,Ingo Borggraefe,Alice Kuster,Saskia B. Wortmann,Saskia B. Wortmann,Saskia B. Wortmann,Annette Hackenberg,Robert Steinfeld,Birgit Assmann,Christian Staufner,Thomas Opladen,Evžen Růžička,Ronald D. Cohn,David A. Dyment,Wendy K. Chung,Hartmut Engels,Andres O. Ceballos-Baumann,Rafał Płoski,Oliver Daumke,Oliver Daumke,Bernhard Haslinger,Volker Mall,Konrad Oexle,Juliane Winkelmann +120 more
TL;DR: The role of monogenic variants across the range of dystonic disorders is determined, providing guidance for the introduction of personalised care strategies and fostering follow-up pathophysiological explorations.