HG
Himanshu Goel
Hunter New England Local Health District, University of Newcastle, Sanjay Gandhi Post Graduate Institute of Medical Sciences, All India Institute of Medical Sciences, University of Newcastle Australia
0000-0001-6448-6618
Employment
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Hunter New England Local Health District Clinical Geneticist2010 - Present
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University of Newcastle
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University of Newcastle Australia
Education
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Sanjay Gandhi Post Graduate Institute of Medical Sciences
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All India Institute of Medical Sciences
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Royal Children's Hospital
Projects & Funding
Projects & funding information is unavailable.
Publications (159)
- Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment Save
- AI-Guided Systems Neurogenomics in Neurodevelopmental Disorders Save
- The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome. Save
- CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders Save
- Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics Save
- Defining FBXO11-Related Neurodevelopmental Disorder: Clinical, Molecular and Facial Assessment of 21 Patients Save
- Diagnostic inversion in prenatal genomics: counselling, governance and the expanded role of clinical genetics Save
- The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing Save
- When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants Save
- Correspondence on “Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features” by Higuchi et al Save