Matthew A Lines

PROFILE

Homepage
No homepage is listed.
ORCID
No ORCID is listed.
Affiliations
No affiliations are listed.
Aliases
Matthew A. Lines, Matthew Lines
Publication record
66 papers · 2,389 citations · H-index 26

PAPERS

Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
20232 citationsauthor #11
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
202217 citationsauthor #47
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
20225 citationsauthor #5
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
20227 citationsauthor #35
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia
202217 citationsauthor #1
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review
20213 citationsauthor #8
DRP1 regulates endoplasmic reticulum sheets to control mitochondrial DNA replication and segregation
20210 citationsauthor #4
Mitochondrial fission is required for proper nucleoid distribution within mitochondrial networks
20214 citationsauthor #5
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
202138 citationsauthor #7
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation
202129 citationsauthor #6
A new automated tool to quantify nucleoid distribution within mitochondrial networks
202116 citationsauthor #5
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
20214 citationsauthor #3
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
20218 citationsauthor #1
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import
20208 citationsauthor #5
Autosomal dominant transmission of transient neonatal lactic acidosis: a case report
20201 citationsauthor #2
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
202011 citationsauthor #24
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome
202017 citationsauthor #6
Mis-splicing of Mdm2 leads to Increased P53-Activity and Craniofacial Defects in a MFDM Eftud2 Mutant Mouse Model
20201 citationsauthor #7
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
201957 citationsauthor #14
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
20195 citationsauthor #2
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
201951 citationsauthor #13
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
201980 citationsauthor #48
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
201837 citationsauthor #10
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada
201824 citationsauthor #8
Update in Clinical Genetics and Metabolics
20180 citationsauthor #2
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
201827 citationsauthor #12
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
201823 citationsauthor #2
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
201831 citationsauthor #7
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
201716 citationsauthor #28
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome
201724 citationsauthor #6
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
201751 citationsauthor #12
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
201747 citationsauthor #3
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
201762 citationsauthor #28
Yunis-Varón syndrome caused by biallelic VAC14 mutations
201730 citationsauthor #1
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
201623 citationsauthor #14
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
201693 citationsauthor #15
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
201659 citationsauthor #53
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts
201622 citationsauthor #6
Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
201610 citationsauthor #3
Identification of new FBXL4 patients with mitochondrial disorders
20150 citationsauthor #7
MG-107 Congenital sucrase-isomaltase deficiency: Identification of the common inuit founder mutation
20150 citationsauthor #9
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
2015132 citationsauthor #17
Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation
201550 citationsauthor #9
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.
201524 citationsauthor #14
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
201555 citationsauthor #6
Table 1. [Summary of Molecular Genetic Testing Used in Mandibulofacial Dysostosis with Microcephaly].
20140 citationsauthor #1
Danon Disease Due to a Novel LAMP2 Microduplication.
201411 citationsauthor #1
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
20149 citationsauthor #1
Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.
20144 citationsauthor #2
Figure 1. [Range of external ear findings...].
20140 citationsauthor #1
Peroxisomal D-bifunctional protein deficiency
201444 citationsauthor #1
Table 2. [Clinical Features of Mandibulofacial Dysostosis with Microcephaly].
20140 citationsauthor #1
Figure 2. [Typical craniofacial features of MFDM...].
20140 citationsauthor #1
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
2012208 citationsauthor #1
COL4A1 Mutation in a Pediatric Patient Presenting with Post-Ictal Hemiparesis
20127 citationsauthor #6
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
2012184 citationsauthor #3
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
2012241 citationsauthor #26
When is a desmoid not a desmoid? Endometrial cancer as an extracolonic manifestation of MYH Associated Polyposis (MAP)
20112 citationsauthor #2
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
2006150 citationsauthor #2
FGF–19 is a target of FOXC1 regulation in the eye and encodes a secreted protein highly expressed in the aqueous humour
20040 citationsauthor #2
Identification of target genes regulated by FOXC1 using nickel agarose-based chromatin enrichment.
200437 citationsauthor #2
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
200469 citationsauthor #1
Medical privacy is important
20041 citationsauthor #2
Identification of Novel Genes Regulated by FOXC1 using Chromatin Immunoprecipitation (ChIP)
20030 citationsauthor #2
Molecular genetics of Axenfeld-Rieger malformations.
2002176 citationsauthor #1
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
200230 citationsauthor #1

TIMELINE

2002 206 citations

2003 0 citations

2004 107 citations

2006 150 citations

2011 2 citations

2012 640 citations

2014 68 citations

2015 261 citations

2016 207 citations

2017 230 citations

2018 142 citations

2019 193 citations

2020 38 citations

2021 102 citations

2022 46 citations

2023 2 citations

COAUTHOR MAP

CONCEPT FOOTPRINT