基本信息
浏览量:11

个人简介
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
研究兴趣
论文共 240 篇作者统计合作学者相似作者
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期刊级别
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Monatsschrift Kinderheilkundepp.1-5, (2025)
European Journal of Human Geneticspp.1-6, (2025)
MONATSSCHRIFT KINDERHEILKUNDE (2025)
Tzung-Chien Hsieh, Dylan Todd,Taylor Warner, Kayla Blankenship,Dimah Saade, Hannah Weiland, Meghna Ahuja Bhasin,Hannah Klinkhammer,Jing-Mei Li,Peter Krawitz, Wei-Liang Chen,Ho-Ming Luk,Moon Ley Tung,Bharatendu Chandra
medrxiv(2025)
Clinical Proteomicsno. 1 (2025): 1-11
Iris Verbinnen,Sofia Douzgou Houge,Tzung-Chien Hsieh,Hellen Lesmann, Aron Kirchhoff,David Geneviève,Elise Brimble,Lisa Lenaerts,Dorien Haesen, Rebecca J Levy,Julien Thevenon,Laurence Faivre,Elysa Marco,Jessica X Chong,Mike Bamshad,Karynne Patterson,Ghayda M Mirzaa,Kimberly Foss,William Dobyns,Susan M White,Lynn Pais,Emily O'Heir,Raphaela Itzikowitz,Kirsten A Donald,Celia Van der Merwe,Alessandro Mussa, Raffaela Cervini,Elisa Giorgio,Tony Roscioli,Kerith-Rae Dias,Carey-Anne Evans,Natasha J Brown,Anna Ruiz,Juan Pablo Trujillo Quintero,Rachel Rabin,John Pappas, Hai Yuan,Katherine Lachlan,Simon Thomas, Anita Devlin,Michael Wright, Richard Martin, Joanna Karwowska,Renata Posmyk,Nicolas Chatron,Zornitza Stark, Oliver Heath,Martin Delatycki,Rebecca Buchert,Georg-Christoph Korenke,Keri Ramsey,Vinodh Narayanan,Dorothy K Grange,Judith L Weisenberg,Tobias B Haack,Stephanie Karch,Patricia Kipkemoi, Moses Mangi,Karen G C B Bindels de Heus,Marie-Claire Y de Wit,Tahsin Stefan Barakat,Derek Lim,Géraldine Van Winckel,Rebecca C Spillmann,Vandana Shashi,Maureen Jacob, Antonia M Stehr,Undiagnosed Diseases Network,Peter Krawitz, Gunnar Douzgos Houge,Veerle Janssens
American journal of human geneticsno. 3 (2025): 554-571
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
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作者统计
#Papers: 239
#Citation: 8044
H-Index: 38
G-Index: 88
Sociability: 8
Diversity: 3
Activity: 39
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