Bianca Rose Grosz

11PUBLICATIONS
63CO-AUTHORS
Neurology and neuromuscular diseasesCell and nuclear divisionCarbon capture engineering (excl. sequestration)OptometryMedical infection agents (incl. prions)
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Publications (11)

|Jun 09, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

|Oct 14, 2025
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Bianca R Grosz, Melina Ellis, Shuchi Trivedi

|Oct 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea Cortese, Sarah J Beecroft, Stefano Facchini

|Jul 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Andrea Cortese, Sarah J Beecroft, Stefano Facchini

|Jun 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.

Bianca R Grosz, Jevin M Parmar, Melina Ellis

|Mar 18, 2024
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

Shadi El-Wahsh, Avi Fellner, Matthew Hobbs

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Frequent Collaborators

7 joint publications

Marina L Kennerson

7 joint publications

Kishore R Kumar

6 joint publications

Steve Vucic

5 joint publications

Ira W Deveson