Publications by authors named "Matthew Lines"

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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Pascale Sabeh, Samantha A Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Matthew Lines

Am J Hum Genet· January 2025

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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Ryan Iverson, Monica Taljaard, Michael T Geraghty, Michael Pugliese, Kylie Tingley, Matthew Lines

BMC Pediatr· January 2024

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Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Matthew A Lines

Genet Med Open· November 2023

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Contact sites between endoplasmic reticulum sheets and mitochondria regulate mitochondrial DNA replication and segregation.
Hema Saranya Ilamathi, Sara Benhammouda, Amel Lounas, Khalid Al-Naemi, Justine Desrochers-Goyette, Matthew A Lines

iScience· July 2023

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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Matthew Lines

Clin Genet· March 2023

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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Matthew A Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat

Am J Med Genet A· June 2022

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Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Julie Masson, Linda Pons, Tiffany Busa, Chantal Missirian, Matthew Lines

Eur J Med Genet· April 2022

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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Matthew A Lines

Hum Mutat· March 2022

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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Matthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, Turaya Naas, M Laura Duque Lasio

Eur J Hum Genet· November 2021

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A new automated tool to quantify nucleoid distribution within mitochondrial networks.
Hema Saranya Ilamathi, Mathieu Ouellet, Rasha Sabouny, Justine Desrochers-Goyette, Matthew A Lines

Sci Rep· November 2021

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PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Anne Benner, Yazeid Alhaidan, Matthew A Lines, Klaus Brusgaard, Diva D De Leon

Am J Med Genet A· October 2021

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Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.
Daniel I Weiman, Meredith K Gillespie, Taila Hartley, Matthew Osmond, Yoko Ito, Matthew Lines

Child Neurol Open· October 2021

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Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, Fjodor Merkuri, Rachel Aber, Matthew A Lines

Hum Mol Genet· May 2021

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Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
Tian Zhao, Caitlin Goedhart, Gerald Pfeffer, Steven C Greenway, Matthew Lines

Int J Mol Sci· November 2020

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A splice variant in expands the clinical and genetic spectrum of Harel-Yoon syndrome.
Ilana Hanes, Hugh J McMillan, Yoko Ito, Kristin D Kernohan, Joanna Lazier, Matthew A Lines

Neurol Genet· August 2020

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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, Michael T Geraghty, Jonathan B Kronick, Matthew Lines

Orphanet J Rare Dis· April 2020

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Autosomal dominant transmission of transient neonatal lactic acidosis: a case report.
Emily B Mardian, Matthew A Lines, , Gregory P Moore

BMC Pediatr· April 2020

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Brett V Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Matthew Lines

Biol Psychiatry· January 2020

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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Karen Paik, Matthew A Lines, Pranesh Chakraborty, Sara D Khangura, Maureen Latocki

Can J Neurol Sci· November 2019

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
David A Dyment, Paulien A Terhal, Cecilie F Rustad, Kristian Tveten, Christopher Griffith, Matthew A Lines

Eur J Hum Genet· October 2019

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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Devon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, Nicole I Wolf, Autumn S Ivy, Matthew A Lines

Brain· March 2019

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Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada.
Puneet Jain, Danielle Andrade, Elizabeth Donner, David Dyment, Asuri N Prasad, Matthew Lines

Can J Neurol Sci· January 2019

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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Mirna Assoum, Matthew A Lines, Orly Elpeleg, Véronique Darmency, Sharon Whiting

Am J Med Genet A· November 2018

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