Author

Bianca Rose Grosz

The University of SydneyORCID 0000-0002-6926-0551Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Organism:C. elegans· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Garth A. NicholsoniD· 2 shared Marina L. KennersoniD· 2 shared Melina EllisiD· 2 shared Steve VuciciD· 2 shared Alexandra BoylingiD· 1 shared Andre L. M. ReisiD· 1 shared Anthony N. CutrupiiD· 1 shared Brent NeumanniD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Garth A. NicholsonORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

Bianca Rose Grosz, J. Parmar, Melina Ellis, Samantha J. Bryen, Cas Simons, Andre L. M. Reis, Igor Stevanovski, Ira W. Deveson, Garth A. Nicholson, Nigel G. Laing, Mathew Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L. Kennerson

The paper identifies a deep intronic MME variant causing CMT through aberrant splicing, highlighting the importance of considering deep intronic variants in CMT diagnosis.

medRxiv · Apr 22, 2024 · PreprintGenetic & Genomic Medicine

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy: A new mechanism for motor neuron degeneration.

Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Pérez‐Siles, Bianca Rose Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby C.Y. Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A. Nicholson, Steve Vucic, Mario Saporta, Marina L. Kennerson

The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.

bioRxiv · Aug 16, 2022 · PreprintNeuroscience