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研究兴趣

论文共 96 篇作者统计合作学者相似作者

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S424 Multi-Center, International Study of Colonoscopy Findings in Patients with CDH1 and CTNNA1 Germline Pathogenic Variants
Arjun Chatterjee,Robert Hüneburg, Qijun Yang, Shannon Morrison, Anna Bettzüge,Tim Marwitz,Stefan Aretz,Isabel Spier, Tim Ripperger,Silke Redler, Mykyta Kachanov, Alexander Volk,Deepak Vangala, Severin Daum, Elke Holinski-Feder, Verena Steinke-Lange, Kathrin Bahlke,Christian Strassburg, Lady Katherine Mejia-Perez, Margaret O'Malley, Lisa LaGuardia,David Liska,Carole Macaron,Joshua Sommovilla,Jacob Nattermann, Carol A. Burke
American Journal of Gastroenterology（2024）
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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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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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Hereditary Colorectal Carcinoma. Current Genetic Diagnostics
Isabel Spier,Stefan Aretz
COLOPROCTOLOGYno. 2 (2024): 87-95
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CTNNA1 Germline Variants with a Premature Termination Codon Are a Risk Factor for Development of Early-Onset Diffuse Gastric Cancer
Silvana Lobo, Alexandre Dias,Chrystelle Colas, Robert Hueneburg, Lise Boussemart, Liselotte P. van Hest, Leticia Moreira, Carolyn Horton, Jennifer Herrera-Mullar, Dana Farengo Clark,Sigrid Tinschert,Golmard Lisa,Isabel Spier, Adria Lopez-Fernandez, Daniela Oliveira,Marta Ferreira, Magali Svrcek,Pierre Bourgoin, Helene Delhomelle, Paul Mansfield, Verena Steinke-Lange,Sergio Sousa, Manuela Balsinha,Stefan Aretz, Judith Balmana,Melyssa Aronson, Augusto Perazzolo Antoniazzi, Edenir Palmero, Lizet Van der Kolk,Annemieke Cats, Jolanda M. van Dieren, Sergi Castellvi-Bel,Bryson Katona,Rachid Karam, Florence Coulet, Paulo Pereira,Patrick Benusiglio,Carla Oliveira
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 69-70
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作者统计

#Papers: 95

#Citation: 1177

H-Index: 18

G-Index: 33

Sociability: 7

Diversity: 3

Activity: 29

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