Marina L Kennerson

18PUBLICATIONS
89CO-AUTHORS
Cellular nervous systemNeurology and neuromuscular diseasesCraniofacial biologyGene expression (incl. microarray and other genome-wide approaches)Cell and nuclear division
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Publications (18)

|Jul 08, 2026
A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

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

|Jan 07, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Christopher J Record, Tiffany Grider, Adriana P Rebelo

|Dec 08, 2025
Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.

Nurul Angelyn Zulhairy-Liong, Suzanna Edgar, Melina Ellis

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

Bianca R Grosz, Melina Ellis, Shuchi Trivedi

|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

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Frequent Collaborators

9 joint publications

Kishore Raj Kumar

7 joint publications

Bianca R Grosz

5 joint publications

Ira W Deveson

5 joint publications

Nigel Laing