Browse By Person: Maksemous, Neven
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Number of items: 28.
2025
Alfayyadh, Mohammed M., Maksemous, Neven, Sutherland, Heidi G., Lea, Rodney A., & Griffiths, Lyn R.
(2025)
PathVar: A Customisable NGS Variant Calling Algorithm Implicates Novel Candidate Genes and Pathways in Hemiplegic Migraine.
Clinical Genetics, 107(2), pp. 157-168.
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Dunn, Paul J., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., & Griffiths, Lyn R.
(2025)
Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.
Clinica Chimica Acta, 567, Article number: 120120.
2024
Alfayyadh, Mohammed M., Maksemous, Neven, Sutherland, Heidi G., Lea, Rod A., & Griffiths, Lyn R.
(2024)
Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches.
Genes, 15(4), Article number: 443.
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2023
Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., & Griffiths, Lyn R.
(2023)
Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology.
Human Genetics, 142(9), pp. 1361-1373.
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Maksemous, Neven, Harder, Aster V.E., Ibrahim, Omar, Vijfhuizen, Lisanne S., Sutherland, Heidi, Pelzer, Nadine, de Boer, Irene, Terwindt, Gisela M., Lea, Rodney A., van den Maagdenberg, Arn M.J.M., & Griffiths, Lyn R.
(2023)
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.
Molecular Neurobiology, 60(6), pp. 3034-3043.
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2022
Dunn, P. J., Harvey, N. R., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., & Griffiths, L. R.
(2022)
Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.
Molecular Neurobiology, 59(9), pp. 5366-5378.
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Maksemous, Neven, Blayney, Claire D, Sutherland, Heidi, Smith, Robert, Lea, Rodney, Tran, Kim Ngan, Abdelrahman, Omar, McArthur, Jeffrey R., Haupt, Larisa, Cader, M. Zameel, Finol-Urdaneta, Rocio K., Adams, David J., & Griffiths, Lyn
(2022)
Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine.
Frontiers in Molecular Neuroscience, 15, Article number: 892820.
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Ibrahim, Omar, Sutherland, Heidi G., Lea, Rodney A., Nasrallah, Fatima, Maksemous, Neven, Smith, Robert A., Haupt, Larisa M., & Griffiths, Lyn R.
(2022)
Discriminating head trauma outcomes using machine learning and genomics.
Journal of Molecular Medicine, 100(2), pp. 303-312.
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Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., & Griffiths, Lyn R.
(2022)
Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease.
Molecular Neurobiology, 59(12), pp. 7293-7302.
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2021
Xue, Huiqin, Maksemous, Neven, Sidhom, David, Ma, Lan, Chen, Shaohui, Wu, Jianrui, Feng, Yu, Haupt, Larisa M., & Griffiths, Lyn R.
(2021)
Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A.
Journal of Genetics, 100(2), Article number: 58.
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Ngo, Thi Tuyet Dieu, Lea, Rodney A., Maksemous, Neven, Eccles, David A., Smith, Robert A., Dunn, Paul J., Thao, Van Cao, Ha, Thi Minh Thi, Bui, Chi Bao, Haupt, Larisa M., Scott, Rodney, & Griffiths, Lyn R.
(2021)
The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients.
Epilepsy Research, 172, Article number: 106593.
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2020
Sutherland, Heidi G., Maksemous, Neven, Albury, Cassie L., Ibrahim, Omar, Smith, Robert A., Lea, Rod A., Haupt, Larisa M., Jenkins, Bronwyn, Tsang, Benjamin, & Griffiths, Lyn R.
(2020)
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Cells, 9(11), Article number: 2368 1-16.
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Ibrahim, Omar, Sutherland, Heidi G., Maksemous, Neven, Smith, Robert, Haupt, Larisa M., & Griffiths, Lyn R.
(2020)
Exploring neuronal vulnerability to head trauma using a whole exome approach.
Journal of Neurotrauma, 37(17), pp. 1870-1879.
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Maksemous, Neven, Sutherland, Heidi G., Smith, Robert A., Haupt, Larisa M., & Griffiths, Lyn R.
(2020)
Comprehensive exonic sequencing of known ataxia genes in episodic ataxia.
Biomedicines, 8(5), Article number: 134.
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Dunn, Paul J., Maher, Bridget H., Albury, Cassie L., Stuart, Shani, Sutherland, Heidi G., Maksemous, Neven, Benton, Miles C., Smith, Robert A., Haupt, Larisa M., & Griffiths, Lyn R.
(2020)
Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Molecular Genetics and Genomics, 295(3), pp. 751-763.
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Pillai, Suja, Maksemous, Neven, & Lam, Alfred K.
(2020)
Genome sequencing in esophageal squamous cell carcinoma.
In
Lam, Alfred K. (Ed.) Esophageal squamous cell carcinoma: Methods and protocols.
Humana Press, United States of America, pp. 217-240.
Dunn, P. J., Maksemous, N., Sutherland, H. G., Haupt, L. M., & Griffiths, L. R.
(2020)
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Human Genomics, 14, Article number: 2.
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2019
Maksemous, Neven, Smith, Robert, Sutherland, Heidi, Maher, Bridget, Abdelrahman, Omar, Nicholson, Garth A., Carpenter, Elisabeth, Lea, Rodney, Cader, Zameel M., & Griffiths, Lyn
(2019)
Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine.
Cephalalgia Reports, 2, pp. 1-9.
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Benton, Miles, Smith, Robert, Haupt, Larisa, Sutherland, Heidi, Dunn, Paul, Albury, Cassie, Maksemous, Neven, Lea, Rodney, & Griffiths, Lyn
(2019)
Variant Call Format (VCF)-Diagnostic Annotation and Reporting Tool (VCF-DART) A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data.
Journal of Molecular Diagnostics, 21(6), pp. 951-960.
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2018
Bradshaw, Gabrielle, Lualhati, Robbie, Albury, Cassie, Maksemous, Neven, Roos-Araujo, Deidre, Smith, Robert, Benton, Miles, Eccles, David, Lea, Rodney, Sutherland, Heidi, Haupt, Larisa, & Griffiths, Lyn
(2018)
Exome sequencing diagnoses x-linked moesin-associated immunodeficiency in a primary immunodeficiency case.
Frontiers in Immunology, 9, Article number: 420 1-9.
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Dunn, Paul, Albury, Cassie, Maksemous, Neven, Benton, Miles, Sutherland, Heidi, Smith, Robert, Haupt, Larisa, & Griffiths, Lyn
(2018)
Next generation sequencing methods for diagnosis of epilepsy syndromes.
Frontiers in Genetics, 9, Article number: 20 1-11.
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Maksemous, Neven, Smith, Robert, Sutherland, Heidi, Sampaio, Hugo, & Griffiths, Lyn
(2018)
Whole-exome sequencing implicates SCN2A in episodic ataxia, but multiple ion channel variants may contribute to phenotypic complexity.
International Journal of Molecular Sciences, 19(10), Article number: 3113 1-9.
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2016
Maksemous, Neven
(2016)
Development of high through-put neurogenetics diagnostics.
PhD
thesis,
Queensland University of Technology.
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Tantsis, Esther, Gill, Deepak, Griffiths, Lyn, Gupta, Sachin, Lawson, John, Maksemous, Neven, Ouvrier, Robert, Riant, Florence, Smith, Robert, Troedson, Christopher, Webster, Richard, & Menezes, Manoj
(2016)
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Developmental Medicine and Child Neurology, 58(6), pp. 639-644.
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Maksemous, Neven, Roy, Bishakha, Smith, Robert, & Griffiths, Lyn
(2016)
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.
Molecular Genetics and Genomic Medicine, 4(2), pp. 211-222.
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Maksemous, Neven, Smith, Robert, Haupt, Larisa, & Griffiths, Lyn
(2016)
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Human Genomics, 10, Article number: 38 1-12.
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2012
Stuart, Shani, Roy, Bishakha, Davies, Gail, Maksemous, Nevene, Smith, Robert, & Griffiths, Lyn
(2012)
Detection of a novel mutation in the CACNA1A gene.
Twin Research and Human Genetics, 15(01), pp. 120-125.
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Roy, Bishakha, Maksemous, Nevene, Smith, Robert, Menon, Saras, Davies, Gail, & Griffiths, Lyn
(2012)
Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 732(1 - 2), pp. 3-8.
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