Author

Roland Werner Pfäffle

University Hospital LeipzigORCID 0000-0001-6754-3681Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:imaging· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Martin ZenkeriD· 2 shared Adele RuderiD· 1 shared Alberto De RosaiD· 1 shared Alexander HustinxiD· 1 shared Alexandra KelleriD· 1 shared Alma Kuechler· 1 shared Amaka C OffiahiD· 1 shared Amal Mohammed AlhashemiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Martin ZenkerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 27, 2026

Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases

Eike Bolmer, Philipp Schmidt, Isabel Fischer…·Behnam Javanmardi

Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.

1 citation

humanimaging

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GeneticsbioRxivPreprintMar 26, 2019

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Benjamin Büttner, Sonja Martin, Anja Finck…·Rami Abou Jamra

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.

1 citation

humanwhole-exome sequencing

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