Tom Witkowski
La Trobe University
11 Papers
15 Citations
Tom Witkowski is an academic researcher from La Trobe University. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 4, co-authored 7 publications. Previous affiliations of Tom Witkowski include Epigenomics AG.
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Papers
Molecular Genomic Profiling of Melanocytic Nevi.
Andrew J. Colebatch,Andrew J. Colebatch,Peter M. Ferguson,Peter M. Ferguson,Felicity Newell,Stephen H. Kazakoff,Tom Witkowski,Alexander Dobrovic,Alexander Dobrovic,Peter Johansson,Robyn P. M. Saw,Robyn P. M. Saw,Jonathan R. Stretch,Grant A. McArthur,Grant A. McArthur,Georgina V. Long,Georgina V. Long,John F. Thompson,John F. Thompson,John V. Pearson,Graham J. Mann,Nicholas K. Hayward,Nicola Waddell,Richard A. Scolyer,Richard A. Scolyer,James S. Wilmott +25 more
TL;DR: It is confirmed that UVR is involved in the etiology of a subset of nevi, and TERT promoter mutations are present in morphologically benign skin nevi in subclonal populations, which has implications regarding the interpretation of this emerging biomarker in sensitive assays.
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Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Sattar Khoshkhoo,Yian Wang,Y. Chahine,E. Zeynep Erson-Omay,Stephanie M. Robert,Emre Kiziltug,Eyiyemisi C. Damisah,Carol Nelson-Williams,Guangya Zhu,Wenna Kong,August Yue Huang,Edward Stronge,H. Westley Phillips,Brian Chhouk,Sara Bizzotto,Ming-Hui Chen,Thiuni N Adikari,Zimeng Ye,Tom Witkowski,Dulcie Lai,Julie Lokan,Ingrid E. Scheffer,Samuel F. Berkovic,Shozeb Haider,Michael S. Hildebrand,Edward Yang,Murat Gunel,Richard P. Lifton,Robert M. Richardson,Ingmar Blümcke,Sanda Alexandrescu,Anita Huttner,Erin L. Heinzen,Jidong Zhu,Annapurna Poduri,Nihal C. deLanerolle,Dennis D. Spencer,Eunjung Lee,Christopher T. Walsh,Kristopher T. Kahle +39 more
TL;DR: In this paper , a genetic association study of 105 neurosurgically treated patients with mesial temporal lobe epilepsy and 30 neurotypical brain donors, 11 pathogenic somatic variants enriched in the hippocampus were detected in unrelated patients with MTLE but not in the controls.
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Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Zimeng Ye,Sufang Lin,Xia Zhao,Mark F Bennet,Natasha J Brown,Mathew Wallis,Xinyi Gao,Li Sun,Jiarui Wu,Ravikiran Vedururu,Tom Witkowski,Fiona Gardiner,Chloe A Stutterd,Jing Duan,Saul A. Mullen,George McGillivray,S. Bodek,Giulia M Valente,Matthew Reagan,Yi Yao,Lin Li,L Chen,Amber Boys,Thiuni N Adikari,Dezhi Cao,Zhanqi Hu,Victoria Beshay,Victor Wei Zhang,Samuel F. Berkovic,Ingrid E. Scheffer,Jianxiang Liao,Michael S. Hildebrand +31 more
TL;DR: The contribution of low-level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with TSC is investigated and the critical need to change laboratory practice by implementing higher sensitivity assays to improve diagnostic yield is highlighted.
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Comparison of 3 Methodologies for Genotyping of Small Deletion and Insertion Polymorphisms
Su Kah Goh,Su Kah Goh,Ashan Musafer,Tom Witkowski,Vijayaragavan Muralidharan,Christopher Christophi,Hongdo Do,Hongdo Do,Hongdo Do,Alexander Dobrovic,Alexander Dobrovic,Alexander Dobrovic +11 more
TL;DR: HRMA proved to be the optimal approach for genotyping small DIPs because closed-tube approaches are preferred owing to rapid and less laborious workflows and least risk of PCR contamination.
A Synthetic DNA Construct to Evaluate the Recovery Efficiency of Cell-Free DNA Extraction and Bisulfite Modification.
Su Kah Goh,Su Kah Goh,Daniel R A Cox,Daniel R A Cox,Boris Ka Leong Wong,Boris Ka Leong Wong,Ashan Musafer,Tom Witkowski,Hongdo Do,Hongdo Do,Hongdo Do,Vijayaragavan Muralidharan,Vijayaragavan Muralidharan,Alexander Dobrovic +13 more
TL;DR: In this paper, an exogenous DNA construct was developed to evaluate the recovery efficiency of cfDNA extraction and bisulfite modification after plasma DNA extraction and subsequent bisulfitite modification.
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