Michael T. Geraghty

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 65 publications

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.

Journal: JIMD reports

Published: August 06, 2025

IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 08, 2024

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Journal: BMC pediatrics

Published: May 19, 2023

Hypoglycemia Associated With PEG-asparaginase and 6-MP Therapy During Treatment of Acute Lymphoblastic Leukemia in Pediatric Patients: A Case Series.

Hypoglycemia Associated With PEG-asparaginase and 6-MP Therapy During Treatment of Acute Lymphoblastic Leukemia in Pediatric Patients: A Case Series.

Journal: Journal of pediatric hematology/oncology

Published: May 19, 2023

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.

Journal: Pediatric pulmonology

Published: October 19, 2022

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

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

Journal: Clinical genetics

Published: September 25, 2022

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Journal: Human molecular genetics

Published: October 25, 2021

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Journal: Pediatrics

Published: March 22, 2021

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

Journal: Journal of inherited metabolic disease

Published: November 16, 2020

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

Journal: European journal of human genetics : EJHG

Published: October 09, 2020

Blindness Caused by a Junk Food Diet.

Blindness Caused by a Junk Food Diet.

Journal: Annals of internal medicine

Published: April 21, 2020

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Journal: Movement disorders clinical practice

Published: April 17, 2020

Showing 1-12 of 65

Last Updated: 09/26/2026