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研究兴趣

论文共 231 篇作者统计合作学者相似作者

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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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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt,Magdalena Danyel,Kathrin Grundmann,Theresa Brunet,Hannah Klinkhammer,Tzung-Chien Hsieh,Hartmut Engels,Sophia Peters,Alexej Knaus,Shahida Moosa,Luisa Averdunk,Felix Boschann,Henrike Lisa Sczakiel,Sarina Schwartzmann,Martin Atta Mensah,Jean Tori Pantel,Manuel Holtgrewe, Annemarie Bösch,Claudia Weiß,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M Kaindl,Susanne Holzhauer,Christoph Bührer,Philip Bufler, Uwe Kornak,Claus-Eric Ott,Markus Schülke,Hoa Huu Phuc Nguyen,Sabine Hoffjan,Corinna Grasemann,Tobias Rothoeft,Folke Brinkmann,Nora Matar,Sugirthan Sivalingam,Claudia Perne,Elisabeth Mangold,Martina Kreiss,Kirsten Cremer,Regina C Betz,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Isabel Spier,André Heimbach,Tim Bender,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas,Valentin S Schäfer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet Önder,Hellen Lesmann,Sheetal Kumar,Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Körholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schröck,André Heinen,Ulrike Reuner, Amalia-Mihaela Hanßke,Frank J Kaiser,Eva Manka,Martin Munteanu,Alma Kuechler,Kiewert Cordula,Raphael Hirtz,Elena Schlapakow,Christian Schlein,Jasmin Lisfeld,Christian Kubisch,Theresia Herget,Maja Hempel,Christina Weiler-Normann, Kurt Ullrich,Christoph Schramm,Cornelia Rudolph,Franziska Rillig, Maximilian Groffmann,Ania Muntau, Alexandra Tibelius,Eva M C Schwaibold,Christian P Schaaf,Michal Zawada,Lilian Kaufmann,Katrin Hinderhofer, Pamela M Okun,Urania Kotzaeridou,Georg F Hoffmann,Daniela Choukair,Markus Bettendorf,Malte Spielmann,Annekatrin Ripke,Martje Pauly,Alexander Münchau,Katja Lohmann,Irina Hüning,Britta Hanker,Tobias Bäumer,Rebecca Herzog,Yorck Hellenbroich,Dominik S Westphal,Tim Strom,Reka Kovacs,Korbinian M Riedhammer,Katharina Mayerhanser,Elisabeth Graf,Melanie Brugger,Julia Hoefele,Konrad Oexle,Nazanin Mirza-Schreiber,Riccardo Berutti,Ulrich Schatz,Martin Krenn,Christine Makowski,Heike Weigand,Sebastian Schröder,Meino Rohlfs,Katharina Vill,Fabian Hauck,Ingo Borggraefe,Wolfgang Müller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes R Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Wödl,Holm Graessner,Marc Sturm,Lena Zeltner,Ludger J Schöls,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Ernest Turro,Denise Horn,Annette Grüters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Nöthen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
Nature geneticsno. 8 (2024): 1644-1653
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Exceptional Response of BRAFV600E-Mutated Acinar Cell CUP to BRAF/MEK Inhibition
Irina A Kerle, Anne-Marie Scheuble, Benjamin Kobitzsch,Gertraud Stocker, G G Ruth Hiller, Maja Badendick,Doreen William,Alexander Krueger, Thomas Gross, Anja Koegler, Andreas Hartig,Daniela Richter,Daniela E Aust,Evelin Schroeck,Christoph Heining,Hanno Glimm,Ulrich T Hacker
JCO precision oncology (2024): e2400030-e2400030
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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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Exceptional Response of BRAFV600E-Mutated Acinar Cell CUP to BRAF/MEK Inhibition
Irina A. Kerle, Anne-Marie Scheuble, Benjamin Kobitzsch,Gertraud Stocker, G.G. Ruth Hiller, Maja Badendick,Doreen William,Alexander Krueger, Thomas Gross, Anja Koegler, Andreas Hartig,Daniela Richter,Daniela E. Aust,Evelin Schroeck,Christoph Heining,Hanno Glimm,Ulrich T. Hacker
JCO Precision Oncology (2024)
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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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作者统计

#Papers: 231

#Citation: 11170

H-Index: 50

G-Index: 104

Sociability: 7

Diversity: 3

Activity: 80

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