Mr Tom Witkowski
Research Assistant - Molecular Genetics
Department of Medicine
25 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
DOI: 10.1038/s41588-026-02547-52026
Journal article
MTORopathy With Striking Progression on Imaging in Adulthood
DOI: 10.1212/wn9.00000000000000562026
Journal article
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
DOI: 10.1002/ana.780712025
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
DOI: 10.1101/2025.09.02.253349232025
Journal article
T-Cell Receptor Repertoires Show Dynamic Variation Between Diagnosis and Relapse of Diffuse Large B-Cell Lymphoma.
DOI: 10.1002/jha2.700972025
Journal article
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
DOI: 10.1093/hmg/ddaf0772023
Conference Proceedings
Somatic Variants Activating Ras-MAPK Signaling Cause a Spectrum of Focal Lesions Associated with Mesial Temporal Lobe Epilepsy
RECENT SCHOLARLY WORKS
2023
Journal article
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
DOI: 10.1001/jamaneurol.2023.04732023
Journal article
ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature
DOI: 10.1007/s00428-022-03451-z2022
Journal article
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
DOI: 10.1002/humu.24454