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Employment (1)

Austin Health: Melbourne, Victoria, AU

2019-12-21 to present | Clinical Geneticist (Clinical Genetics)
Employment
Source: Self-asserted source
Simon Bodek

Works (9)

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

Orphanet Journal of Rare Diseases
2024-08-02 | Journal article
DOI: 10.1186/s13023-024-03297-5
Contributors: Mathew Wallis; Simon D. Bodek; Jacob Munro; Haloom Rafehi; Mark F. Bennett; Zimeng Ye; Amy Schneider; Fiona Gardiner; Giulia Valente; Emma Murdoch et al.
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Crossref

Genomic Testing in Patients with Kidney Failure of an Unknown Cause

Clinical Journal of the American Society of Nephrology
2024-07 | Journal article
DOI: 10.2215/CJN.0000000000000464
Contributors: Amali C. Mallawaarachchi; Lindsay Fowles; Louise Wardrop; Alasdair Wood; Rosie O'Shea; Erik Biros; Trudie Harris; Stephen I. Alexander; Simon Bodek; Neil Boudville et al.
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Crossref

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.

2023-09-22 | Preprint
DOI: 10.21203/rs.3.rs-3247557/v1
Contributors: Mathew Wallis; Simon Bodek; Jacob Munro; Haloom Rafehi; Mark F Bennett; Zimeng Ye; Amy Schneider; Fiona Gardiner; Giulia Valente; Emma Murdoch et al.
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Crossref

A Rare Case of Concomitant Dual Genetic Cardiomyopathies in a Patient Complicated by Stroke

Circulation
2022 | Journal article
WOSUID: WOS:000890856902214
Contributors: Ranasinghe, Mark P.; Kwok, Cecilia; Lim, Han; Bodek, Simon; Nolan, Mark
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Web of Science Researcher Profile Sync

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

Human Mutation
2022 | Journal article
DOI: 10.1002/HUMU.24454
WOSUID: WOS:000850221400001
Contributors: Ye, Zimeng; Lin, Sufang; Zhao, Xia; Bennett, Mark F.; Brown, Natasha J.; Wallis, Mathew; Gao, Xinyi; Sun, Li; Wu, Jiarui; Vedururu, Ravikiran et al.
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Recurrent heterozygous <i>PAX6</i> missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction

Genetics in Medicine
2020 | Journal article
DOI: 10.1038/S41436-019-0685-9
WOSUID: WOS:000518171700017
Contributors: Williamson, Kathleen A.; Hall, H. Nikki; Owen, Liusaidh J.; Livesey, Benjamin J.; Hanson, Isabel M.; Adams, G. G. W.; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael et al.
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De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

European Journal of Human Genetics
2019 | Journal article
WOSUID: WOS:000489313900147
Contributors: Blok, L. Snijders; Kleefstra, T.; Venselaar, H.; Maas, S.; Kroes, H. Y.; Lachmeijer, A. M. A.; van Gassen, K. L. I.; Firth, H. V.; Tomkins, S.; Bodek, S. et al.
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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

The American Journal of Human Genetics
2019 | Journal article
DOI: 10.1016/J.AJHG.2019.06.007
WOSUID: WOS:000478022200014
Contributors: Blok, Lot Snijders; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; van Gassen, Koen L., I; Firth, Helen, V; Tomkins, Susan; Bodek, Simon et al.
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Web of Science Researcher Profile Sync

Contemporary referral of patients from community care to cardiology lack diagnostic and clinical detail

International Journal of Clinical Practice
2006 | Journal article
DOI: 10.1111/J.1368-5031.2006.00902.X
WOSUID: WOS:000237258500021
Contributors: Bodek, S; Ghori, K; Edelstein, M; Reed, A; Macfadyen, RJ
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Web of Science Researcher Profile Sync
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