Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases
Georg W. Sendtner, Martin Muecke, Lorenz Grigull, Tim Bender et autres
3 citationsOrphanet Journal of Rare Diseases
Tim Bender
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28Publications signalées
367Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesSpondyloarthritis Studies and TreatmentsInflammatory Myopathies and DermatomyositisNeurogenetic and Muscular Disorders Research
Publications récentes
Altered somatosensory profiles in rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis, and systemic sclerosis
Simon Michael Petzinna, C. Bauer, Ruth S. Schrapper, Martin Mücke et autres
1 citationEULAR Rheumatology Open
Author Correction: 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 et autres
0 citationsNature Genetics
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 et autres
55 citationsNature Genetics
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet et autres
15 citationsmedRxiv
A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D
Dorian Emmert, Natasza Szczypien, Tim Bender, Lorenz Grigull et autres
3 citationsOrphanet Journal of Rare Diseases
Seltene Erkrankungen in der Differenzialdiagnose bei Myalgien
Dorian Emmert, T. Rasche, Julia Sellin, R. Brunkhorst et autres
0 citationsDer Nervenarzt
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung‐Chien Hsieh, Axel Schmidt et autres
10 citationsHuman Mutation
Seltene Erkrankungen in der Differenzialdiagnose bei Myalgien
Dorian Emmert, T. Rasche, Julia Sellin, R. Brunkhorst et autres
2 citationsDer Schmerz
A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D
Dorian Emmert, Natasza Szczypien, Tim Bender, Lorenz Grigull et autres
2 citationsResearch Square
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke et autres
230 citationsNature Genetics
Autorinnen und Autoren
Aniela Angelow, Erika Baum, Annette Becker, Tim Bender et autres
0 citationsElsevier eBooks
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