a public good project by the
Synthesis
Company
of California

© 2026

Peter Krawitz | doi.page

0 works0 citations0 h-index

Peter Krawitz

University of Bonn(DE)University Hospital Bonn(DE)Center for Genomic Science(IT)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Lysosomal Storage Disorders Research

Most-Cited Works

→ Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions(2015)2,236 cited
→ Identifying facial phenotypes of genetic disorders using deep learning(2018)710 cited
→ Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies(2009)612 cited
→ Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish(2013)492 cited
→ Improved exome prioritization of disease genes through cross-species phenotype comparison(2013)381 cited
→ Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome(2010)299 cited

→ Mutations in WNT1 Cause Different Forms of Bone Fragility(2013)

281 cited

→ Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome(2014)265 cited

→ Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression(2020)250 cited

→ Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome(2013)214 cited