Tom Witkowski

245 Burgundy St
Heidelberg, VIC 3084, Australia

Last Updated: 09/26/2026

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Found 18 publications

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: Progress in neuro-psychopharmacology & biological psychiatry

Published: November 23, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Journal: Annals of neurology

Published: May 21, 2025

T-Cell Receptor Repertoires Show Dynamic Variation Between Diagnosis and Relapse of Diffuse Large B-Cell Lymphoma.

T-Cell Receptor Repertoires Show Dynamic Variation Between Diagnosis and Relapse of Diffuse Large B-Cell Lymphoma.

Journal: EJHaem

Published: January 06, 2025

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.

Journal: Human molecular genetics

Published: October 10, 2024

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

Journal: JAMA neurology

Published: May 01, 2023

ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature.

ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature.

Journal: Virchows Archiv : an international journal of pathology

Published: August 05, 2022

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Journal: Human mutation

Published: March 10, 2022

Ropporin-1 and 1B Are Widely Expressed in Human Melanoma and Evoke Strong Humoral Immune Responses.

Ropporin-1 and 1B Are Widely Expressed in Human Melanoma and Evoke Strong Humoral Immune Responses.

Journal: Cancers

Published: March 22, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026