L. Brady

发表

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

M. Tarnopolsky, G. Vladutiu, M. Sidhu, 2018, Molecular genetics and metabolism reports.

Impact of Habitual Exercise on the Strength of Individuals with Myotonic Dystrophy Type 1

M. Tarnopolsky, L. Macneil, L. Brady, 2014, American journal of physical medicine & rehabilitation.

The Efficacy of Whole Genome Sequencing and RNA-Seq in the Diagnosis of Whole Exome Sequencing Negative Patients with Complex Neurological Phenotypes

M. Tarnopolsky, L. Brady, Bianca Blake, 2021, Journal of Pediatric Genetics.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

Early and lethal neurodegeneration with myasthenic and myopathic features

M. Tarnopolsky, R. Rodenburg, C. Müller, 2017, Neurology.

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

M. Tarnopolsky, D. Bulman, B. Sadikovic, 2019, Mitochondrion.

Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation

S. Baker, L. Brady, Jasmine Gite, 2020, Neuromuscular Disorders.

Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis

May Y. Choi, M. Tarnopolsky, M. Fritzler, 2019, Front. Immunol..

A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865T>C variant.

M. Tarnopolsky, L. Brady, Rashid Al-Shahoumi, 2020, Mitochondrion.

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

M. Tarnopolsky, M. Nilsson, Fady Hannah-Shmouni, 2019, Front. Neurol..

Peroxisomal D-bifunctional protein deficiency

S. Scherer, C. Marshall, A. Lang, 2014, Neurology.

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

M. Tarnopolsky, A. Fry, S. Davies, 2020, American journal of human genetics.

A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations

M. Tarnopolsky, J. Schwartzentruber, A. Saleem, 2017, European Journal of Human Genetics.

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

M. Tarnopolsky, L. Brady, Julia N Heighton, 2017, Mitochondrion.

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients

M. Tarnopolsky, P. Ainsworth, B. Sadikovic, 2020, Journal of Medical Genetics.

Aberrant Drp1‐mediated mitochondrial division presents in humans with variable outcomes

Sharyn A. Lincoln, I. Glass, M. Tarnopolsky, 2018, Human molecular genetics.

POLRMT mutations impair mitochondrial transcription causing neurological disease

Robert W. Taylor, M. Tarnopolsky, H. Ropers, 2021, Nature Communications.

An evaluation of genetic causes and environmental risks for bilateral optic atrophy

M. Tarnopolsky, D. Bulman, J. Waye, 2019, PloS one.

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

M. Tarnopolsky, J. Shoffner, L. Brady, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

I. Krantz, A. Beaudet, C. Schwartz, 2019, American journal of human genetics.

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Sharyn A. Lincoln, W. Chung, M. Tarnopolsky, 2016, Human Genetics.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

M. Tarnopolsky, A. Capuano, M. Tartaglia, 2019, Pediatric neurology.

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

T. Hornemann, Sita D Gupta, K. Gable, 2021, Nature Medicine.

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

S. Cheung, R. Hennekam, C. Schwartz, 2018, Nature Communications.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis

S. Topper, D. del Gaudio, K. Arndt, 2016, Clinical genetics.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.

M. Tarnopolsky, G. Ronen, M. Sidhu, 2017, Pediatric neurology.

Two cases of congenital myasthenic syndrome with vocal cord paralysis

M. Tarnopolsky, J. Schwartzentruber, L. Brady, 2015, Neurology.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

M. Tarnopolsky, V. Dolinsky, D. Wieczorek, 2019, Brain : a journal of neurology.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Kiely N. James, A. Fatemi, M. Tarnopolsky, 2019, The Journal of clinical investigation.

Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration

M. Tarnopolsky, M. Coulthart, S. Goodwin, 2014, BMC Medical Genetics.

Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.

M. Tarnopolsky, K. Ohno, A. Engel, 2020, JCI insight.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

M. Tarnopolsky, K. Boycott, K. Kernohan, 2021, American journal of human genetics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

A. L. La Spada, B. Fogel, S. Baker, 2021, Acta Neuropathologica Communications.

Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population

M. Tarnopolsky, B. Kaufman, B. Sadikovic, 2020, American journal of medical genetics. Part A.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

J. Gécz, C. Marshall, M. Tarnopolsky, 2020, Frontiers in Molecular Neuroscience.

Dual molecular diagnoses in a neurometabolic specialty clinic

M. Tarnopolsky, Fady Hannah-Shmouni, L. Brady, 2020, American journal of medical genetics. Part A.

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

M. Tarnopolsky, Chumei Li, L. Nfonsam, 2022, Molecular genetics & genomic medicine.

Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers.

M. Tarnopolsky, G. Ronen, L. Brady, 2017, Pediatric neurology.

Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.

M. Tarnopolsky, B. Sadikovic, C. A. Rupar, 2018, Mitochondrion.

CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation.

M. Tarnopolsky, B. Sadikovic, L. Brady, 2019, Mitochondrion.

Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly

M. Tarnopolsky, L. Brady, B. DeFrance, 2022, Molecular Syndromology.

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

M. Tarnopolsky, M. Tétreault, L. Brady, 2017, Neurology.

Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline

M. Tarnopolsky, J. Kolesar, B. Kaufman, 2022, Human Genome Variation.

Anti–Valosin‐Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies

M. Hudson, M. Tarnopolsky, M. Fritzler, 2022, ACR open rheumatology.

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

M. Tarnopolsky, J. Shoffner, L. Brady, 2018, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.