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Papers共 106 篇Author StatisticsCo-AuthorSimilar Experts

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Long-read Genome and RNA Sequencing Resolve a Pathogenic Intronic Germline LINE-1 Insertion in APC
Alexandra A Baumann, Lisanne I Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J Widmann, Marcus Franke,Karl Hackmann, Sylke Winkler,Daniela Richter,Isabel Spier,Stefan Aretz,Daniela Aust,Joseph Porrmann,Doreen William,Evelin Schröck,Hanno Glimm,Arne Jahn
NPJ genomic medicineno. 1 (2025): 30-30
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Long-read genome sequencing and RNA sequencing resolve an intronic LINE-1 insertion in the APC gene in a so far unsolved adenomatous polyposis family
Alexandra A. Baumann, Lisanne Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Marcus Franke,Doreen William,Karl Hackmann,Daniela Richter,Isabel Spier,Stefan Aretz,Hanno Glimm,Evelin Schroeck,Arne Jahn
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 550-551
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Limitations in Next-Generation Sequencing-Based Genotyping of Breast Cancer Polygenic Risk Score Loci
Alexandra Baumann,Christian Ruckert, Christoph Meier, Tim Hutschenreiter,Robert Remy, Benedikt Schnur, Marvin Doebel, Rudel Christian Nkouamedjo Fankep,Dariush Skowronek, Oliver Kutz,Norbert Arnold, Anna-Lena Katzke,Michael Forster, Anna-Lena Kobiela, Katharina Thiedig,Andreas Zimmer,Julia Ritter,Bernhard H. F. Weber,Ellen Honisch,Karl Hackmann,Gunnar Schmidt,Marc Sturm,Corinna Ernst, Marvin Dobel,Stephan Drukewitz,Christoph Engel,Peter Frommolt,Eva Gross,Johannes Helmuth, Zarah Kowalzyk,Maximilian Radtke,Juliane Ramser, Steffen Uebe,Shan Wang-Gohrke
European Journal of Human Geneticsno. 8 (2024): 987-997
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An inherited PUF60 variant expands the genetic and phenotypic spectrum of the Verheij syndrome
Maria Constanza Roa Bravo, Andrea Kuebler,Karl Hackmann,Evelin Schroeck,Jens Schallner,Joseph Porrmann,Arne Jahn
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 542-542
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Single Center Experience with Diagnostic Whole Genome Sequencing in 70 Patients with Rare Diseases
Doreen William, Zarah Kowalzyk,Karl Hackmann, Marion Bermudez, Oliver Kutz, Samira Zarvandi,Jan Fischer,Arne Jahn, Marcus Franke, Maria Constanza Roa Bravo, Lydia Rossow, Ann-Selin Onuk, Sylvia Huetter,Joseph Porrmann,Jens Schallner,Tanita Kretschmer,Catharina Schuetz,Min Ae Lee-Kirsch,Reinhard Berner,Evelin Schroeck,Nataliya Di Donato
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 292-292
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Author Statistics

#Papers: 106

#Citation: 2521

H-Index: 27

G-Index: 48

Sociability: 7

Diversity: 3

Activity: 4

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