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Matthew A. Lines · SciRah

Researcher profile · Semantic Scholar

Matthew A. Lines

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Matthew A. Lines — researcher profile on SciRah

h-index: 28
Works: 69
Citations: 2,524

Most-cited papers

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
J. Van Houdt, B. Nowakowska, S. Sousa, B. V. van Schaik +45 more
2012Nature Genetics245 citations
Semantic Scholar
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Matthew A. Lines, Li-Jia Huang, J. Schwartzentruber, Stuart Douglas +23 more
2012American Journal of Human Genetics212 citations Open access
Semantic Scholar
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
R. Hood, Matthew A. Lines, S. Nikkel, J. Schwartzentruber +24 more
2012American Journal of Human Genetics187 citations Open access
Semantic Scholar
Molecular genetics of Axenfeld-Rieger malformations.
Matthew A. Lines, K. Kozlowski, M. A. Walter
2002Human Molecular Genetics178 citations Open access
Semantic Scholar
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
F. Berry, Matthew A. Lines, J. M. Oas, T. Footz +3 more
2006Human Molecular Genetics159 citations Open access
Semantic Scholar
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Jason R Vanstone, Amanda M Smith, Skye McBride, Turaya Naas +13 more
2015European Journal of Human Genetics137 citations Open access
Semantic Scholar
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
H. Daoud, S. Luco, Rui Li, E. Bareke +15 more
2016Canadian Medical Association Journal97 citations Open access
Semantic Scholar
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
D. Johnstone, Hilal H. Al-Shekaili, M. Tarailo-Graovac, N. Wolf +49 more
2019Brain : a journal of neurology83 citations Open access
Semantic Scholar
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
G. Rice, Naoki Kitabayashi, M. Barth, T. Briggs +48 more
2017Neuropediatrics82 citations Open access
Semantic Scholar
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
Matthew A. Lines, K. Kozlowski, Stephen C. Kulak, R. Allingham +7 more
2004Investigative Ophthalmology and Visual Science69 citations
Semantic Scholar
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Li-Jia Huang, M. Vanstone, T. Hartley, M. Osmond +49 more
2015Human Mutation62 citations Open access
Semantic Scholar
Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling.
Brett Johnson, Raman Kumar, Sabrina Oishi, S. Alexander +102 more
2019Biological Psychiatry58 citations Open access
Semantic Scholar
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
J. Zambonin, Allison Bellomo, H. Ben-Pazi, D. Everman +18 more
2017Orphanet Journal of Rare Diseases56 citations Open access
Semantic Scholar
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
M. Tétreault, S. Fahiminiya, H. Antonicka, G. Mitchell +8 more
2015Human Genetics56 citations
Semantic Scholar
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
D. Dyment, P. Terhal, C. Rustad, K. Tveten +9 more
2019European Journal of Human Genetics55 citations Open access
Semantic Scholar
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
Kevin E. Glinton, P. Benke, Matthew A. Lines, M. Geraghty +8 more
2017Molecular Genetics and Metabolism51 citations
Semantic Scholar
Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation
Julien Marcadier, M. Boland, C. Scott, Kheirie Issa +5 more
2015Canadian Medical Association Journal50 citations Open access
Semantic Scholar
Peroxisomal D-bifunctional protein deficiency
Matthew A. Lines, R. Jobling, L. Brady, C. Marshall +8 more
2014Neurology45 citations Open access
Semantic Scholar
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
Marie-Claude Beauchamp, Anissa Djedid, E. Bareke, Fjodor Merkuri +8 more
2021Human Molecular Genetics42 citations Open access
Semantic Scholar
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
T. Balci, J. Davila, Denice Lewis, A. Boafo +7 more
2018American Journal of Medical Genetics Part B: Neuropsychiatric Genetics38 citations
Semantic Scholar
Identification of target genes regulated by FOXC1 using nickel agarose-based chromatin enrichment.
Y. Tamimi, Matthew A. Lines, M. Coca‐Prados, M. A. Walter
2004Investigative Ophthalmology and Visual Science37 citations
Semantic Scholar
Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation
H. S. Ilamathi, Sara Benhammouda, A. Lounas, Khalid Al-Naemi +5 more
2021bioRxiv36 citations Open access
Semantic Scholar
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
K. Kernohan, T. Hartley, S. Naumenko, Christine M. Armour +8 more
2018American Journal of Medical Genetics. Part A33 citations
Semantic Scholar
Yunis-Varón syndrome caused by biallelic VAC14 mutations
Matthew A. Lines, Yoko A. Ito, K. Kernohan, W. Mears +12 more
2017European Journal of Human Genetics33 citations Open access
Semantic Scholar
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
Matthew A. Lines, M. Hébert, K. McTaggart, S. Flynn +2 more
2002Ophthalmology (Rochester, Minn.)31 citations
Semantic Scholar
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.
G. Antoun, Skye McBride, Jason R Vanstone, Turaya Naas +10 more
2015JIMD Reports29 citations Open access
Semantic Scholar
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
M. Almannai, Julia Wang, Hongzheng Dai, A. El-Hattab +15 more
2018Molecular Genetics and Metabolism28 citations
Semantic Scholar
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome
Hongzheng Dai, V. Zhang, A. El-Hattab, C. Ficicioglu +10 more
2017Clinical Genetics28 citations
Semantic Scholar
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
M. Assoum, Matthew A. Lines, O. Elpeleg, Véronique Darmency +18 more
2018American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada
P. Jain, Danielle M. Andrade, E. Donner, D. Dyment +5 more
2018Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques25 citations Open access
Semantic Scholar
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts
U. Liwak-Muir, Hapsatou Mamady, Turaya Naas, Quinlan Wylie +6 more
2016Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Amanda M Smith, Skye McBride, Julien Marcadier, J. Michaud +10 more
2016JIMD Reports23 citations Open access
Semantic Scholar
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia
Matthew A. Lines, P. Goldenberg, Ashley Wong, S. Srivastava +27 more
2022American Journal of Medical Genetics. Part A20 citations Open access
Semantic Scholar
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
M. Scala, Saskia B. Wortmann, N. Kaya, M. Stellingwerff +71 more
2022Human Mutation20 citations Open access
Semantic Scholar
A new automated tool to quantify nucleoid distribution within mitochondrial networks
H. S. Ilamathi, Mathieu Ouellet, R. Sabouny, Justine Desrochers-Goyette +4 more
2021Scientific Reports18 citations Open access
Semantic Scholar
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome
Ilana Hanes, H. McMillan, Yoko A. Ito, K. Kernohan +3 more
2020Neurology: Genetics18 citations Open access
Semantic Scholar
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
Matthew A. Lines, Alexanne Cuillerier, P. Chakraborty, Turaya Naas +10 more
2021European Journal of Human Genetics12 citations Open access
Semantic Scholar
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
Kylie Tingley, Monica Lamoureux, Michael Pugliese, M. Geraghty +51 more
2020Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
Danon Disease Due to a Novel LAMP2 Microduplication.
Matthew A. Lines, S. Hewson, William Halliday, Peter J. B. Sabatini +4 more
2014JIMD Reports12 citations Open access
Semantic Scholar
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A. Dumas, C. Maios, Hiba Daghar +65 more
2024American Journal of Human Genetics10 citations Open access
Semantic Scholar
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
T. Hartley, Élisabeth C Soubry, Meryl Acker, M. Osmond +69 more
2022Clinical Genetics10 citations
Semantic Scholar
Genotype–phenotype characterization in 13 individuals with chromosome Xp11.22 duplications
S. Grams, B. Argiropoulos, Matthew A. Lines, P. Chakraborty +16 more
2016American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import
Tian Zhao, Caitlin Goedhart, G. Pfeffer, Steven C. Greenway +4 more
2020International Journal of Molecular Sciences9 citations Open access
Semantic Scholar
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
Matthew A. Lines, C. A. Rupar, J. Rip, B. Baskin +5 more
2014JIMD Reports9 citations Open access
Semantic Scholar
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Anne Benner, Yazeid Alhaidan, Matthew A. Lines, K. Brusgaard +4 more
2021American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review
Daniel I. Weiman, Meredith K. Gillespie, T. Hartley, M. Osmond +5 more
2021Child Neurology Open7 citations Open access
Semantic Scholar
COL4A1 Mutation in a Pediatric Patient Presenting with Post-Ictal Hemiparesis
M. Leung, Evan C. Lewis, P. Humphreys, E. Miller +3 more
2012Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques7 citations Open access
Semantic Scholar
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Julie Masson, L. Pons, T. Busa, C. Missirian +7 more
2022European Journal of Medical Genetics5 citations Open access
Semantic Scholar
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
Karen Paik, Matthew A. Lines, P. Chakraborty, Sara D. Khangura +25 more
2019Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques5 citations Open access
Semantic Scholar
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Teresa Campbell, J. Slone, Hallie Metzger, Wensheng Liu +12 more
2023Genetics in medicine open4 citations Open access
Semantic Scholar

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