Bianca Rose Grosz

11PUBLICATIONS
63CO-AUTHORS
Neurology and neuromuscular diseasesCell and nuclear divisionOptometryMedical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

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

|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

|Oct 19, 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza

|Mar 16, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Bianca R Grosz, Stephen Tisch, Michel C Tchan

Pageof 2

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