Marina L Kennerson (Marina Kennerson)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 20

Top Topics

Duchenne Muscular Dystrophy

Dna Methylation

Top Venues

Journal of the peripheral nervous system : JPNS

Movement disorders clinical practice

Journal of neurology, neurosurgery, and psychiatry

Molecular genetics & genomic medicine

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

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)
Laura Ivete Rudaks, Dennis Yeow, Karl Ng, Ira W Deveson, Marina L Kennerson, Kishore Raj Kumar
An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches. Cerebellum (London, England) (2024)
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of neurology, neurosurgery, and psychiatry (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)
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of neurology, neurosurgery, and psychiatry (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)
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)
Matthew Silsby, Con Yiannikas, Alessandro F Fois, Marina L Kennerson, Matthew C Kiernan, Victor S C Fung, Steve Vucic
Upper and lower limb tremor in Charcot-Marie-Tooth neuropathy type 1A and the implications for standing balance. Journal of neurology (2023)
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)
Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, James M Ferguson, Sandy S Pineda, Carolin K Scriba, Michel C Tchan, Victor S C Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson-Stone, Lauren Fitzpatrick, Glenda M Halliday, Gianina Ravenscroft, Mark R Davis, Nigel G Laing, Avi Fellner, Marina L Kennerson, Kishore Raj Kumar, Ira W Deveson
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science advances 8 (9) (2022)
Nahid Tavana, Thilakavathy Karuppiah, Marina L Kennerson, Tzer-Hwu Ting
Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults. Endokrynologia Polska 72 (4) (2021)
Alvaro Gonzalez Rajal, Kamila A Marzec, Rachael A McCloy, Max Nobis, Venessa Chin, Jordan F Hastings, Kaitao Lai, Marina L Kennerson, William E Hughes, Vijesh Vaghjiani, Paul Timpson, Jason E Cain, D Neil Watkins, David R Croucher, Andrew Burgess
A non-genetic, cell cycle-dependent mechanism of platinum resistance in lung adenocarcinoma. eLife 10 (2021)
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)
Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I Takata, Carlos E Speck-Martins, Garth Nicholson, Marina L Kennerson
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. Disease models & mechanisms 13 (2) (2020)
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)
Anthony N Cutrupi, Megan H Brewer, Garth A Nicholson, Marina L Kennerson
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. Molecular genetics & genomic medicine 6 (3) (2018)