Publications by authors named "Michael Geraghty"

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IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Sunita Venkateswaran, Jean Michaud, Yoko Ito, Michael Geraghty, Evan C Lewis

Mov Disord· November 2024

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Raman amplifier based on stimulated Raman scattering in a methane-filled hollow core fiber.
Shawn Hampton, Michael Geraghty, Joseph R Chavez, Andrew P Ongstad, Ryan A Lane

Opt Express· July 2024

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Hypoglycemia Associated With PEG-asparaginase and 6-MP Therapy During Treatment of Acute Lymphoblastic Leukemia in Pediatric Patients: A Case Series.
Mary R Jiang, Alexandra Ahmet, Sarah Lawrence, Mylene Bassal, Matthew Speckert, Michael T Geraghty

J Pediatr Hematol Oncol· March 2024

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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

BMC Pediatr· January 2024

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First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
Julia Hunter-Schouela, Michael T Geraghty, Robert A Hegele, David A Dyment, David St Pierre

Pediatr Pulmonol· 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, Michael Geraghty

Clin Genet· March 2023

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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Michael T Geraghty

Hum Mol Genet· October 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, Michael T Geraghty

Eur J Hum Genet· November 2021

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Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Michael T Geraghty

Pediatrics· August 2021

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Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
Willemijn J van Rijt, Johan L K Van Hove, Frédéric M Vaz, Rick Havinga, Derk P Allersma, Michael T Geraghty

J Inherit Metab Dis· July 2021

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Devon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, Kristin D Kernohan, Anik St-Denis, Michael T Geraghty

J Inherit Metab Dis· November 2020

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Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Laurence Gauquelin, Taila Hartley, Mark Tarnopolsky, David A Dyment, Bernard Brais, Michael T Geraghty

Mov Disord Clin Pract· November 2020

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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, A Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, Michael T Geraghty

Genet Med· May 2020

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Direct Health Care Costs, Health Services Utilization, and Outcomes of Biliary Atresia: A Population-based Cohort Study.
Shabnaz Siddiq, Carolina Jimenez-Rivera, M Ellen Kuenzig, Isac Lima, Michael T Geraghty

J Pediatr Gastroenterol Nutr· April 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

Orphanet J Rare Dis· April 2020

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Blindness Caused by a Junk Food Diet.
Alison M R Castle, Pranesh Chakraborty, Michael Geraghty

Ann Intern Med· April 2020

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Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Kate C Verbeeten, Anne-Marie Lamhonwah, Dennis Bulman, Hanna Faghfoury, P Chakraborty, Michael T Geraghty

Mol Genet Metab· March 2020

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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Michael T Geraghty

Orphanet J Rare Dis· January 2020

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Addressing Cybersecurity Risks During the COVID-19 Pandemic.
Michael T Geraghty

MD Advis· 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, Michael T Geraghty

Can J Neurol Sci· November 2019

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Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Carla Martins, Paula Frassinetti V de Medeiros, Sandra Leistner-Segal, Larbi Dridi, Nursel Elcioglu, Michael T Geraghty

Hum Mutat· August 2019

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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .
André B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, Britt I Drögemöller, Mahmoud A Pouladi, Michael T Geraghty

N Engl J Med· April 2019

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Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature.
Bernice Ho, Jennifer MacKenzie, Jagdeep Walia, Michael Geraghty, Graeme Smith

JIMD Rep· March 2019

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Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).
Aneesh Karir, Michael Geraghty, Michael Vassilyadi, Asif Doja

Tremor Other Hyperkinet Mov (N Y)· November 2018

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Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
Kristin D Kernohan, Taila Hartley, Sergey Naumenko, Christine M Armour, Gail E Graham, Michael T Geraghty

Am J Med Genet A· July 2018

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