Publication & Citation Trends
Publications
409 total
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood PDF
Cited by 247
OpenAlex
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance PDF
Cited by 595
OpenAlex
Derepression of an endogenous long terminal repeat activates the CSF1R proto-oncogene in human lymphoma
Cited by 374
OpenAlex
Integration of cytogenetic landmarks into the draft sequence of the human genome PDF
Cited by 324
OpenAlex
Research Topics
Genomic variations and chromosomal abnormalities
(75)
Genomics and Chromatin Dynamics
(46)
Epigenetics and DNA Methylation
(37)
DNA Repair Mechanisms
(30)
Chromosomal and Genetic Variations
(30)
Affiliations
South Australia Pathology
American Type Culture Collection
Leiden University
Novartis (Switzerland)
Hôpital Necker-Enfants Malades