Faculty profile

Jennifer MacKenzie

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Professor EmeritusPediatricsMcMaster University

Research

Research areas, by share of publications

Research areas are derived from OpenAlex topics of their publications.

42 publications.

01

The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study

Chow AJ, Jordan I, Pallone N, Smith M, Chakraborty P, Brehaut J, Chan AKJ, Cohen E, Dyack S, Graham ID

Orphanet Journal of Rare Diseases2026
DOI: 10.1186/s13023-026-04434-y
02

Family‐centred care interventions for children with chronic conditions: A scoping review

Chow AJ, Saad A, Al‐Baldawi Z, Iverson R, Skidmore B, Jordan I, Pallone N, Smith M, Chakraborty P, Brehaut J

Health Expectations202435 citationsOpen Access
DOI: 10.1111/hex.13897PMID: W4391512486
03

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

Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C

BMC Pediatrics20244 citationsOpen Access
DOI: 10.1186/s12887-023-04393-4PMID: W4390840255
04

Sirenomelia: An anatomical assessment and genetic sex determination of two cases

Vander Pol SL, MacKenzie JJ, Harrison KJ, Reifel CW, Smith RML, Bale L, Pang SC, Taylor SAM

Journal of Anatomy2024
DOI: 10.1111/joa.14015
05

Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J

BMJ Open20222 citationsOpen Access
DOI: 10.1136/bmjopen-2021-055664PMID: W4213002216
06

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S

Nature Genetics2021107 citations
DOI: 10.1038/s41588-021-00886-z
07

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A

American Journal of Human Genetics202186 citations
DOI: 10.1016/j.ajhg.2021.01.015
08

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

Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S

Pediatrics202130 citations
DOI: 10.1542/peds.2020-037747
09

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y

Nature2020277 citations
DOI: 10.1038/s41586-019-1830-y
10

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L

Orphanet Journal of Rare Diseases202025 citationsOpen Access
DOI: 10.1186/s13023-019-1276-1PMID: W3002669956

Frequent collaborators

3
Jennifer MacKenzieMurray Alexander PotterKesava ReddyMariya Kozenko
Co-authors at McMaster University. Thicker lines mean more shared papers.Explore the network

Murray Alexander Potter

Pathology & Molecular Medicine

13 shared papers, latest 2026

Mariya Kozenko

Pediatrics

1 shared papers, latest 2020

Kesava Reddy

Surgery

1 shared papers, latest 2020

Researchers with similar interests

Mariya Kozenko

Pediatrics

Genomics and Rare Diseases, Metabolism and Genetic Disorders

Resham Ejaz

Pediatrics

Genomics and Rare Diseases

Chumei Li

Pediatrics

Genomics and Rare Diseases

Patricia P Rosebush

Psychiatry & Behavioural Neurosciences

Metabolism and Genetic Disorders

Paula Teixeira Marques

Medicine

Genomics and Rare Diseases

Malgorzata Nowaczyk

Pathology & Molecular Medicine

Genomics and Rare Diseases

Write to this professor

A short, specific email works best. This draft uses one of their recent papers; replace the parts in brackets with your own details before sending.

Applying for
Subject: Prospective PhD student: Metabolism and Genetic Disorders Dear Professor MacKenzie, My name is [your name], and I am a [your current degree or role] at [your institution]. I am applying for a PhD position starting in [term and year]. I read your paper "The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study" (2026), and it connects closely to my own work on [your research topic]. [One or two sentences on what you did and what you learned.] Are you accepting new PhD students for [term and year]? I have attached my CV and transcripts, and I would be glad to talk at a time that suits you. Thank you for your time. Kind regards, [your name]
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