Publication & Citation Trends
Most Cited Works
Publications
111 total
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools PDF
Cited by 166
OpenAlex
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases PDF
Cited by 133
OpenAlex
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
Cited by 240
OpenAlex
Predictive and prognostic implications of KRAS genotype in patients with metastatic colorectal cancer (MCRC) treated with FIr-B/FOx association.
Cited by 2
Semantic Scholar
Use of Splicing Reporter Minigene Assay to Evaluate the Effect on Splicing of Unclassified Genetic Variants
Cited by 189
OpenAlex
Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations
Cited by 148
OpenAlex
A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects
Cited by 161
OpenAlex
Genomic Deletions of OFD1 Account for 23% of Oral-facial-digital Type 1 Syndrome After Negative
Cited by 0
Semantic Scholar
Research Topics
Coagulation, Bradykinin, Polyphosphates, and Angioedema
(32)
Complement system in diseases
(16)
RNA and protein synthesis mechanisms
(14)
RNA Research and Splicing
(13)
Hemophilia Treatment and Research
(11)
Frequent Co-Authors
Affiliations
National Institute of Genetics
University of Minnesota
Inserm
Institut Pasteur
Johannes Gutenberg University Mainz