Concepedia
Statistics
Publications
6
Citations
100
H-Index
Active since
2019
Affiliations
Anzac Research Institute(Current)
The University of Sydney
Concord Repatriation General Hospital
Garvan Institute of Medical Research
University of Miami
Bianca R. Grosz is an author at Anzac Research Institute specializing in genetics, neurogenetics, and neurology.
Publications per year
2019–2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini et al. · Nature Communications · 2024 · 28 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Long read sequencing overcomes challenges in the diagnosis of <scp><i>SORD</i></scp> neuropathy
Bianca R. Grosz, Igor Stevanovski, Sara Negri et al. · Journal of the Peripheral Nervous System · 2022 · 18 citations
Life Sciences, Genetics, Neurology +17
Genome sequencing reanalysis increases the diagnostic yield in dystonia
Avi Fellner, Gurusidheshwar M. Wali, Neil Mahant et al. · Parkinsonism & Related Disorders · 2024 · 16 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy
Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Pérez‐Siles et al. · Brain · 2022 · 14 citations · Full text
Life Sciences, Genetics, Neurology +16
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
Bianca R. Grosz, Natasha B. Golovchenko, Melina Ellis et al. · Scientific Reports · 2019 · 13 citations · Full text
Medicine, Genetics, Neurology +17
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