Faculty profile

Michael Geraghty

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Full ProfessorPediatricsUniversity of Ottawa

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Research

Read how they describe their research on their University of Ottawa profile.

Latest papers

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.
JIMD reports · 2026
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.
Movement disorders : official journal of the Movement Disorder Society · 2024
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Clinical Genetics · 2023

All 11 publications

Latest funding

An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
CIHR · 2019 · Co-investigator
$2,754,009
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
CIHR · 2011 · Co-investigator
$1,490,492

All 2 grants and awards

11 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.

Tholl SQ, McCaul W, Rupar A, Napier MP, Karp N, Yu AC, Ratko S, Khan A, Geraghty M, Prasad C

JIMD reports2026

DOI: 10.1002/jmd2.70064 PMID: 41550690

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

Venkateswaran S, Michaud J, Ito Y, Geraghty M, Lewis EC, Ellezam B, Boycott KM, Dyment DA, Kernohan KD, Care4Rare Canada Consortium

Movement disorders : official journal of the Movement Disorder Society2024

DOI: 10.1002/mds.29938 PMID: 39224955

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

Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L

Clinical Genetics202315 citations

DOI: 10.1111/cge.14262

Blindness Caused by a Junk Food Diet.

Castle AMR, Chakraborty P, Geraghty M

Annals of internal medicine2020Senior author

DOI: 10.7326/l20-0015 PMID: 32311707

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

Ho B, MacKenzie J, Walia J, Geraghty M, Smith G, Nedvidek J, Guerin A

JIMD Reports20195 citations

DOI: 10.1002/jmd2.12025

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).

Karir A, Geraghty M, Vassilyadi M, Doja A

Tremor and other hyperkinetic movements (New York, N.Y.)2018

DOI: 10.7916/d8sx7wfq PMID: 29971196

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AKJ, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M

JIMD Reports20154 citationsOpen Access

DOI: 10.1007/8904_2014_347 PMID: W202450369

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD

Blood2014

DOI: 10.1182/blood-2014-08-591370 PMID: 25193871

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B

Molecular Genetics and Metabolism2014144 citations

DOI: 10.1016/j.ymgme.2013.10.018

COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis.

Leung M, Lewis E, Humphreys P, Miller E, Geraghty M, Lines M, Sell E

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques2012

DOI: 10.1017/s0317167100015420 PMID: 22931710

Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.

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Michael Geraghty

Research

Latest papers

Latest funding

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

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

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

Blindness Caused by a Junk Food Diet.

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome).

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

COL4A1 mutation in a pediatric patient presenting with post-ictal hemiparesis.

An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases

Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism

Frequent collaborators

Pranesh Chakraborty

Jennifer MacKenzie

Kumanan Wilson

Jagdeep Walia

Peter Humphreys

Graeme Smith

Clara van Karnebeek

Julian Little

Ronald Cohn

Sylvia Stockler

Gail Graham

Peter Kannu

Jodi Warman Chardon

Nomazulu Dlamini

Lauren Chad

Kristin Kernohan

Gregory Costain

Taila Hartley

Doug Coyle

Jean Michaud

Mark Tarnopolsky