U
Ulrike Krüger
Researcher at Charité
Publications - 21
Citations - 1165
Ulrike Krüger is an academic researcher from Charité. The author has contributed to research in topics: Exome sequencing & Mutation. The author has an hindex of 14, co-authored 20 publications receiving 909 citations. Previous affiliations of Ulrike Krüger include Humboldt University of Berlin.
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Journal ArticleDOI
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
Tomasz Zemojtel,Sebastian Köhler,Luisa Mackenroth,Marten Jäger,Jochen Hecht,Peter Krawitz,Luitgard Graul-Neumann,Sandra C. Doelken,Nadja Ehmke,Malte Spielmann,Nancy Christine Øien,Michal R. Schweiger,Ulrike Krüger,Götz Frommer,Björn Fischer,Uwe Kornak,Ricarda Flöttmann,Amin Ardeshirdavani,Yves Moreau,Suzanna E. Lewis,Melissa A. Haendel,Damian Smedley,Denise Horn,Stefan Mundlos,Peter N. Robinson +24 more
TL;DR: Next-generation sequencing of the DAG followed by phenotype-driven bioinformatic analysis allows quick and effective differential diagnostics in medical genetics, and the authors have made their tools available to the community.
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Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis
Christopher Maximilian Arends,Joel Galan-Sousa,Kaja Hoyer,Willy Chan,Marten Jäger,Kenichi Yoshida,Ricarda Seemann,Daniel Noerenberg,Nils Waldhueter,Helga Fleischer-Notter,Friederike Christen,Clemens A. Schmitt,Bernd Dörken,Uwe Pelzer,Marianne Sinn,Tomasz Zemojtel,Seishi Ogawa,Sven Märdian,Adrian Schreiber,Annegret Kunitz,Ulrike Krüger,Lars Bullinger,Elena Mylonas,Mareike Frick,Frederik Damm,Frederik Damm +25 more
TL;DR: The results provide novel insights into cellular distribution of clonal mutations, their dynamics under chemotherapy, and advocate for systematic analyses for CHIP in cancer patients.
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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Peter Krawitz,Peter Krawitz,Yoshiko Murakami,Jochen Hecht,Jochen Hecht,Ulrike Krüger,Susan E. Holder,Geert Mortier,Barbara Delle Chiaie,Elfride De Baere,Miles D. Thompson,Tony Roscioli,Szymon M. Kielbasa,Taroh Kinoshita,Stefan Mundlos,Stefan Mundlos,Peter N. Robinson,Peter N. Robinson,Denise Horn +18 more
TL;DR: PIGO is identified as the second gene associated with HPMRS and data suggest that a deficiency in GPI-anchor synthesis is the underlying molecular pathomechanism of H PMRS.
Journal ArticleDOI
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
Peter Krawitz,Yoshiko Murakami,Angelika Rieß,Marja Hietala,Ulrike Krüger,Na Zhu,Taroh Kinoshita,Stefan Mundlos,Stefan Mundlos,Jochen Hecht,Jochen Hecht,Peter N. Robinson,Peter N. Robinson,Denise Horn +13 more
TL;DR: It is shown that an impairment of GPI-anchor remodeling also causes HPMRS and it is concluded that targeted sequencing of the genes encoding proteins in the GPI -anchor-synthesis pathway is an effective diagnostic approach for this subclass of CDGs.
Journal ArticleDOI
Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
Malcolm F. Howard,Yoshiko Murakami,Alistair T. Pagnamenta,Cornelia Daumer-Haas,Björn Fischer,Björn Fischer,Jochen Hecht,Jochen Hecht,David A. Keays,Samantha J. L. Knight,Uwe Kölsch,Ulrike Krüger,Steffen Leiz,Yusuke Maeda,Daphne B. Mitchell,Stefan Mundlos,Stefan Mundlos,John A. Phillips,Peter N. Robinson,Peter N. Robinson,Usha Kini,Jenny C. Taylor,Denise Horn,Taroh Kinoshita,Peter Krawitz,Peter Krawitz +25 more
TL;DR: Impairment of PGAP3 causes a subtype of hyperphosphatasia with ID, a congenital disorder of glycosylation that is also referred to as Mabry syndrome, and results confirm the importance of the later GPI-anchor remodelling steps for normal neuronal development.