基本信息
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Career Trajectory
Bio
I am interested in filtering human exome data of patients with rare disorders. For this purpose we develop a web-based filtering and annotation tool, called GeneTalk:
www.gene-talk.de
Besides, I am interested in congenital and acquired GPI anchor deficiencies such as the hyperphosphatasia with mental retardation syndrome
Research Interests
Papers共 234 篇Author StatisticsCo-AuthorSimilar Experts
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期刊级别
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合作机构
Santosh Kumar,Oleg Borisov,Carlo Maj,Damian J. Ralser,Aytaj Humbatova, S. Hanneken,Astrid Schmieder, Jolanta. Gross,Laura Maintz,André Heineke, Jana Knuever,Christina Fagerberg,Laurent Parmentier,Waltraud Anemüller, Vinzenz Oji,Iliana Tantcheva‐Poór,Regina Fölster-Holst,Joerg Wenzel,Peter Krawitz,Jorge Frank,Regina C. Betz
The journal of investigative dermatology/Journal of investigative dermatologyno. 1 (2024): 181-184
medrxiv(2024)
Sheetal Kumar,Oleg Borisov,Carlo Maj,Damian J. Ralser,Aytaj Humbatova,Sandra Hanneken,Astrid Schmieder, Janina Gross,Laura Maintz,Andre Heineke,Jana Knuever,Christina Fagerberg,Laurent Parmentier,Waltraud Anemueller,Vinzenz Oji,Iliana Tantcheva-Poor,Regina Folster-Holst,Joerg Wenzel,Peter M. Krawitz,Jorge Frank,Regina C. Betz, A. I. R. E. is van Laar Gg
JOURNAL OF INVESTIGATIVE DERMATOLOGYno. 1 (2024): 181-184
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 769-770
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AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 9 (2024)
medrxiv(2024)
ArXiv (2024)
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Hellen Lesmann,Alexander Hustinx,Shahida Moosa,Hannah Klinkhammer,Elaine Marchi,Pilar Caro, Ibrahim M Abdelrazek,Jean Tori Pantel, Merle Ten Hagen, Meow-Keong Thong, Rifhan Azwani Binti Mazlan, Sok Kun Tae,Tom Kamphans,Wolfgang Meiswinkel,Jing-Mei Li,Behnam Javanmardi,Alexej Knaus,Annette Uwineza,Cordula Knopp,Tinatin Tkemaladze,Miriam Elbracht, Larissa Mattern,Rami Abou Jamra,Clara Velmans,Vincent Strehlow, Maureen Jacob, Angela Peron, Cristina Dias,Beatriz Carvalho Nunes, Thainá Vilella, Isabel Furquim Pinheiro,Chong Ae Kim,Maria Isabel Melaragno, Hannah Weiland, Sophia Kaptain, Karolina Chwiałkowska, Miroslaw Kwasniewski, Ramy Saad, Sarah Wiethoff,Himanshu Goel, Clara Tang, Anna Hau,Tahsin Stefan Barakat, Przemysław Panek,Amira Nabil, Julia Suh, Frederik Braun, Israel Gomy,Luisa Averdunk,Ekanem Ekure, Gaber Bergant, Borut Peterlin,Claudio Graziano, Nagwa Gaboon, Moisés Fiesco-Roa, Alessandro Mauro Spinelli, Nina-Maria Wilpert,Prasit Phowthongkum,Nergis Güzel,Tobias B Haack, Rana Bitar, Andreas Tzschach, Agusti Rodriguez-Palmero,Theresa Brunet,Sabine Rudnik-Schöneborn, Silvina Noemi Contreras-Capetillo, Ava Oberlack, Carole Samango-Sprouse, Teresa Sadeghin, Margaret Olaya,Konrad Platzer,Artem Borovikov,Franziska Schnabel,Lara Heuft, Vera Herrmann, Renske Oegema, Nour Elkhateeb, Sheetal Kumar, Katalin Komlosi, Khoushoua Mohamed, Silvia Kalantari, Fabio Sirchia, Antonio F Martinez-Monseny, Matthias Höller, Louiza Toutouna, Amal Mohamed,Amaia Lasa-Aranzasti, John A Sayer, Nadja Ehmke, Magdalena Danyel, Henrike Sczakiel, Sarina Schwartzmann, Felix Boschann, Max Zhao, Ronja Adam, Lara Einicke, Denise Horn, Kee Seang Chew, Choy Chen Kam, Miray Karakoyun, Ben Pode-Shakked, Aviva Eliyahu, Rachel Rock, Teresa Carrion, Odelia Chorin, Yuri A Zarate, Marcelo Martinez Conti, Mert Karakaya, Moon Ley Tung, Bharatendu Chandra, Arjan Bouman, Aime Lumaka, Naveed Wasif, Marwan Shinawi, Patrick R Blackburn, Tianyun Wang, Tim Niehues, Axel Schmidt, Regina Rita Roth, Dagmar Wieczorek, Ping Hu,Rebekah L Waikel,Suzanna E Ledgister Hanchard,Gehad Elmakkawy,Sylvia Safwat,Frédéric Ebstein,Elke Krüger,Sébastien Küry, Stéphane Bézieau,Annabelle Arlt, Eric Olinger,Felix Marbach, Dong Li,Lucie Dupuis,Roberto Mendoza-Londono,Sofia Douzgou Houge,Denisa Weis,Brian Hon-Yin Chung,Christopher C Y Mak, Hülya Kayserili, Nursel Elcioglu, Ayca Aykut, Peli Özlem Şimşek-Kiper, Nina Bögershausen, Bernd Wollnik, Heidi Beate Bentzen, Ingo Kurth,Christian Netzer,Aleksandra Jezela-Stanek,Koen Devriendt,Karen W Gripp,Martin Mücke,Alain Verloes,Christian P Schaaf,Christoffer Nellåker,Benjamin D Solomon,Markus M Nöthen,Ebtesam Abdalla,Gholson J Lyon,Peter M Krawitz,Tzung-Chien Hsieh
medRxiv the preprint server for health sciences (2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 597-597
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Author Statistics
#Papers: 235
#Citation: 7912
H-Index: 38
G-Index: 88
Sociability: 8
Diversity: 3
Activity: 76
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