N. Maksemous

发表

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.

Miles C Benton, Robert A Smith, Larisa M Haupt, 2019, The Journal of molecular diagnostics : JMD.

Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes

M. Benton, L. Haupt, H. Sutherland, 2018, Front. Genet..

Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort

H. Sutherland, P. Dunn, N. Maksemous, 2022, Molecular Neurobiology.

Tiered analysis of whole-exome sequencing for epilepsy diagnosis

M. Benton, Robert A. Smith, L. Haupt, 2020, Molecular Genetics and Genomics.

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Robert A. Smith, L. Haupt, H. Sutherland, 2020, Biomedicines.

Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach

Robert A. Smith, L. Haupt, H. Sutherland, 2020, Journal of neurotrauma.

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

Robert A. Smith, L. Haupt, N. Maksemous, 2016, Human Genomics.

Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine

M. Z. Cader, L. Haupt, H. Sutherland, 2022, Frontiers in Molecular Neuroscience.

Next Generation Sequencing Identifies Novel CACNA1A 1 Gene Mutations in Episodic Ataxia Type 2

N. Maksemous, L. Griffiths, B. Roy, 2017 .

Journal Pre-proof A Customizable Analysis Pipeline for Identification of Clinically Relevant Genetic Variants in Next-Generation Sequencing Data

M. Benton, L. Haupt, H. Sutherland, 2020 .

Investigating a Genetic Link Between Alzheimer’s Disease and CADASIL-Related Cerebral Small Vessel Disease

L. Haupt, H. Sutherland, P. Dunn, 2022, Molecular Neurobiology.

Discriminating head trauma outcomes using machine learning and genomics

L. Haupt, H. Sutherland, N. Maksemous, 2021, Journal of Molecular Medicine.

Genome Sequencing in Esophageal Squamous Cell Carcinoma.

N. Maksemous, A. Lam, S. Pillai, 2020, Methods in molecular biology.

Discriminating head trauma outcomes using machine learning and genomics

L. Haupt, H. Sutherland, N. Maksemous, 2021, Journal of molecular medicine.

Investigating diagnostic sequencing techniques for CADASIL diagnosis

L. Haupt, H. Sutherland, P. Dunn, 2020, Human Genomics.

Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

M. Z. Cader, H. Sutherland, N. Maksemous, 2019, Cephalalgia Reports.

Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity

Robert A. Smith, H. Sutherland, N. Maksemous, 2018, International journal of molecular sciences.

Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case

M. Benton, Robert A. Smith, L. Haupt, 2018, Front. Immunol..

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

Robert A. Smith, N. Maksemous, L. Griffiths, 2016, Molecular genetics & genomic medicine.

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.

N. Maksemous, L. Griffiths, G. Davies, 2012, Mutation research.

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH 3 gene

N. Maksemous, L. Griffiths, G. Davies, 2012 .

Eye movement disorders are an early manifestation of CACNA1A mutations in children

N. Maksemous, L. Griffiths, E. Tantsis, 2016, Developmental medicine and child neurology.

Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes

H. Sutherland, N. Maksemous, R. Lea, 2023, Molecular Neurobiology.

Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A

L. Haupt, N. Maksemous, H. Xue, 2021, Journal of Genetics.

Novel compound heterozygous missense mutations in GDAP1 cause Charcot–Marie–Tooth type 4A

L. Haupt, N. Maksemous, L. Griffiths, 2021, Journal of genetics.

The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients

Robert A. Smith, L. Haupt, P. Dunn, 2021, Epilepsy Research.

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants

Robert A. Smith, L. Haupt, H. Sutherland, 2020, Cells.

Detection of a Novel Mutation in the CACNA1A gene

Robert A. Smith, N. Maksemous, L. Griffiths, 2012, Twin Research and Human Genetics.

Variant Call Format–Diagnostic Annotation and Reporting Tool

M. Benton, L. Haupt, H. Sutherland, 2019, The Journal of Molecular Diagnostics.

Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology.

L. Haupt, H. Sutherland, P. Dunn, 2023, Human Genetics.

Tiered analysis of whole-exome sequencing for epilepsy diagnosis

M. Benton, Robert A. Smith, L. Haupt, 2020, Molecular Genetics and Genomics.

Unravelling the Genetic Landscape of Hemiplegic Migraine: Exploring Innovative Strategies and Emerging Approaches

H. Sutherland, N. Maksemous, Lyn R. Griffiths, 2024, Genes.