Bianca Rose Grosz (Bianca Grosz, Bianca R Grosz)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 15

Top Venues

Journal of the peripheral nervous system : JPNS

Movement disorders clinical practice

Nature communications

Molecular genetics & genomic medicine

University of Sydney (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

University of Sydney

Australia

PHD :: ANZAC Research Institute

University of Sydney

Australia

MSC :: Brain and Mind Centre

University of Newcastle

Australia

BSC

Publications

Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS (2024)
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice 11 (5) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice 11 (5) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Shadi El-Wahsh, Avi Fellner, Matthew Hobbs, Joe Copty, Ira W Deveson, Igor Stevanovski, Marion Stoll, Danqing Zhu, Ramesh K Narayanan, Bianca Rose Grosz, Lisa Worgan, Pak Leng Cheong, Dennis Yeow, Laura Ivete Rudaks, Md Mehedi Hasan, Vanessa M Hayes, Marina L Kennerson, Kishore Raj Kumar, Michael Hayes
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia. Movement disorders clinical practice 11 (5) (2024)
Andreas Cortese, Sarah Jane Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K Scriba, Lein Dofash, Mridul Johari, Bianca Rose Grosz, Melina Ellis, Liam G Fearnley, Rick M Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B Delatycki, Elsdon Storey, Mac Gardner, David J Amor, Garth A Nicholson, Steve Vucic, Robert D Henderson, Thomas Robertson, Jason M Dyke, Vicki Fabian, Frank Mastaglia, Mark R Davis, Marina Kennerson, null null, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A Mclean, Nigel G Laing, Tanya Stojkovic, Henry Houlden, Michael G Hanna, Ira W Deveson, Paul J Lockhart, Phillipa J Lamont, Michael Collingwood Fahey, Enrico Bugiardini, Gianina Ravenscroft
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. Nature communications 15 (1) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Bianca Rose Grosz, Igor Stevanovski, Sara Negri, Melina Ellis, Stephanie Barnes, Stephen Reddel, Steve Vucic, Garth A Nicholson, Andrea Cortese, Kishore Raj Kumar, Ira W Deveson, Marina L Kennerson
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy. Journal of the peripheral nervous system : JPNS 27 (2) (2022)
Bianca Rose Grosz, Stephen Tisch, Michel C Tchan, Victor S C Fung, Paul Darveniza, Avi Fellner, Manju A Kurian, Alison McLean, Susan E Tomlinson, Renee Smyth, Sophie Devery, Kathy H C Wu, Marina L Kennerson, Kishore Raj Kumar
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular genetics & genomic medicine 10 (5) (2022)
Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Previtali Stefano Carlo, Stephan Zuchner, Steven S Scherer, Fiore Manganelli, Martin Bähler, Alessandra Bolino
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy. European journal of neurology (2022)
Bianca Rose Grosz, John Svaren, Gonzalo Perez-Siles, Garth A Nicholson, Marina L Kennerson
Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1. Neurogenetics 22 (3) (2021)
Bianca Rose Grosz, Natasha B Golovchenko, Melina Ellis, Kishore Raj Kumar, Garth A Nicholson, Anthony Antonellis, Marina L Kennerson
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Scientific reports 9 (1) (2019)

Bianca Rose Grosz.css-eqlu8i{font-size:small;padding-left:4px;} (Bianca Grosz, Bianca R Grosz)

Publication Activity (10 Years)

Top Topics

Top Venues

Bianca Rose Grosz (Bianca Grosz, Bianca R Grosz)