Publications by authors named "Jennifer MacKenzie"

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Enhancing Clarity in Dynamic Myelography Reporting: Results of a Survey of Patients and Referring Providers Evaluating a Standardized Reporting System in the Myelographic Work-Up of Patients with Suspected Spontaneous Intracranial Hypotension.
Andrew L Callen, Samantha L Pisani Petrucci, Debayan Bhaumik, Peter Lennarson, Marius Birlea, Jennifer MacKenzie

AJNR Am J Neuroradiol· October 2025

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Perspectives from the Inaugural "Spinal CSF Leak: Bridging the Gap" Conference: A Convergence of Clinical and Patient Expertise.
Andrew L Callen, Samantha L Pisani Petrucci, Peter Lennarson, Marius Birlea, Jennifer MacKenzie

AJNR Am J Neuroradiol· July 2024

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Sirenomelia: An anatomical assessment and genetic sex determination of two cases.
Stephanie L Vander Pol, Jennifer J MacKenzie, Karen J Harrison, Conrad W Reifel, Roger M L Smith

J Anat· June 2024

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Family-centred care interventions for children with chronic conditions: A scoping review.
Andrea J Chow, Ammar Saad, Zobaida Al-Baldawi, Ryan Iverson, Becky Skidmore, Jennifer J MacKenzie

Health Expect· February 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, Jennifer MacKenzie

BMC Pediatr· January 2024

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A grounded theory study to identify caregiving phases and support needs across the Alzheimer's disease trajectory.
Kristina M Kokorelias, Monique A M Gignac, Gary Naglie, Nira Rittenberg, Jennifer MacKenzie

Disabil Rehabil· April 2022

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Microglial Inflammation and Cognitive Dysfunction in Comorbid Rat Models of Striatal Ischemic Stroke and Alzheimer's Disease: Effects of Antioxidant Catalase-SKL on Behavioral and Cellular Pathology.
Jennifer L MacKenzie, Nadezda Ivanova, Hayley J Nell, Courtney R Giordano, Stanley R Terlecky

Neuroscience· April 2022

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Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
Andrea J Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordan, Jennifer J MacKenzie

BMJ Open· February 2022

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Implementation of Telehealth Services in Rural Schools: A Qualitative Assessment.
Kimberley Fox, Amanda Burgess, Martha Elbaum Williamson, John Massey, George Shaler, Jennifer MacKenzie

J Sch Health· January 2022

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Telehealth Use in a Rural State: A Mixed-Methods Study Using Maine's All-Payer Claims Database.
Yvonne C Jonk, Amanda Burgess, Martha Elbaum Williamson, Deborah Thayer, Jennifer MacKenzie

J Rural Health· September 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, Alex MacKenzie, Jennifer MacKenzie

Pediatrics· August 2021

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Jennifer J MacKenzie

Nat Genet· July 2021

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Jennifer J MacKenzie

Am J Hum Genet· March 2021

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Genetics of Colloid Cyst in Monozygotic Twins: Case Report and Review of Literature.
Melissa Lannon, Jennifer Mackenzie, Kesava Reddy

World Neurosurg· December 2020

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Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series.
Emory Ryan, Dominick Amato, Jennifer J MacKenzie, Ellen Sidransky, Grisel Lopez

Mov Disord Clin Pract· October 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, Jennifer MacKenzie

Orphanet J Rare Dis· April 2020

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A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Panfeng Tao, Jinqiao Sun, Zheming Wu, Shihao Wang, Jun Wang, Jennifer J MacKenzie

Nature· January 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, Alex MacKenzie, Jennifer MacKenzie

Orphanet J Rare Dis· January 2020

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Atypical late presentation of galactosemia.
Sarah M Simpson, Jennifer J MacKenzie, Yi Ning J Strube

Can J Ophthalmol· August 2019

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Bridging the gap in genetics: a progressive model for primary to specialist care.
Brittany Harding, Colleen Webber, Lucia Rühland, Nancy Dalgarno, Christine Armour, Jennifer J MacKenzie

BMC Med Educ· June 2019

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Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network.
Behrouz Ehsani-Moghaddam, John A Queenan, Jennifer MacKenzie, Richard V Birtwhistle

PLoS One· May 2019

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Using Public Cost Information During Low Back Pain Visits: A Qualitative Study.
Kimberley S Fox, Carolyn E Gray, Martha Elbaum Williamson, Jennifer A MacKenzie

Ann Intern Med· May 2019

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Student Reflections on the Queen's Accelerated Route to Medical School Programme.
Jennifer J MacKenzie, Denise Stockley, Amber Hastings-Truelove, Theresa Nowlan Suart, Eleni Katsoulas

J Med Educ Curric Dev· March 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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Primary care providers' lived experiences of genetics in practice.
Brittany Harding, Colleen Webber, Lucia Ruhland, Nancy Dalgarno, Christine M Armour, Jennifer J MacKenzie

J Community Genet· January 2019

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