Publications

 

Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes

GWAS
Hearing loss
Precision medicine
Age-related hearing loss affects one-third of the population over 65 years. However, the diverse pathologies underlying these heterogeneous phenotypes complicate genetic…
November 2025
Ahmed, Samah., Vaden Jr, Kenneth I., Lewis, Morag A., Leitao, Darren., Steel, Karen P., Dubno, Judy R., Drögemöller, Britt I.

 

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma

Precision medicine
Genome sequencing
Rare Mendelian disorders
Inborn errors of immunity (IEIs) are caused by deleterious variants in immune-related genes. ASXL1 is an epigenetic modifier not previously linked to an IEI. Clonal…
October 2025
Fu, Maggie P., Sharma, Mehul., Yousefi, Pariya., Merrill, Sarah M., Tan, Ryan., Samra, Simran., et al.

 

SCN3A-related neurodevelopmental disorder: clinical case reports and biophysical characterization

Genome sequencing
Precision medicine
Rare Mendelian disorders
SCN3A, the gene encoding the voltage-gated sodium channel, Nav1.3, plays a critical role in early neuronal development. Although traditionally considered a neonatal channel…
October 2025
Ghovanloo, Mohammad-Reza., Gershome, Cynthia., van der Lee, Robin., Drögemöller, Britt., Zhang, Linhua., Matthews, Allison., et al.

 

Genetic Variations in Bitter Taste Receptors and COVID-19 in the Canadian Longitudinal Study on Aging

GWAS
Precision medicine
Background/Objectives: Bitter Taste Receptors (encoded by TAS2R genes) are expressed in mucosal and bronchial epithelia, as well as in immune cells, contributing to defense…
October 2025
Shafizadeh, Marziyeh., Khan, Mohd Wasif., Drögemöller, Britt., Stavropoulou, Chrysi., St John, Philip., Bhullar, Rajinder P., et al.

 

Leveraging Large-scale Datasets and Single Cell Omics Data to Develop a Polygenic Score for Cisplatin-induced Ototoxicity

Pharmacogenomics
Precision medicine
Hearing loss
Polygenic scores
Single cell technologies
Background: Cisplatin-induced ototoxicity (CIO), characterized by irreversible and progressive bilateral hearing loss, is a prevalent adverse effect of cisplatin…
October 2024
Miao, Deanne Nixie., Wilke, MacKenzie., Pham, John., Ladha, Feryal., Singh, Mansumeet., Arsenio, Janilyn., et al.

 

A Multi-Centre, Tolerability Study of a Cannabidiol-enriched Cannabis Herbal Extract for Chronic Headaches in Adolescents: the CAN-CHA Protocol

Pharmacogenomics
Precision medicine
Introduction: Cannabis products have been used in the management of headaches in adults and may play a role in pediatric chronic pain. Canadian pediatricians report…
September 2024
Chhabra, Manik., Lewis, Evan C., Balshaw, Robert., Stewart, Breanne., Zaslawski, Zina., Lowthian, Trinity., et al.

 

CIAO1 and MMS19 deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Precision medicine
Rare Mendelian disorders
Genome sequencing
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the…
June 2024
Karnebeek, Clara., Tarailo-Graovac, Maja., Leen, René., Meinsma, Rutger., Correard, Solenne., Jansen-Meijer, Judith., et al.

 

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes

Precision medicine
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2-5% of North Americans. FASD is induced by prenatal alcohol…
May 2024
McKay, Leo., Petrelli, Berardino., Pind, Molly., Reynolds, James N., Wintle, Richard F., Chudley, Albert E., et al.

 

Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub‐Saharan African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Genetic variation in CYP2B6 and CYP2A6 is known to impact interindividual response to antiretrovirals, nicotine, and bupropion, among other drugs. However, the full…
March 2024
Drögemöller, Britt I., Twesigomwe, David, Wright, Galen E. B., Adebamowo, Clement, Agongo, Godfred, Boua, Palwendé R., Matshaba, Mogomotsi, Paximadis, Maria, Hazelhurst, Scott, et al.

 

Current Perspectives on Data Sharing and Open Science in Pharmacogenomics

Pharmacogenomics
Precision medicine
GWAS
Open science
Genome-wide association studies (GWAS) summary statistics provide opportunities to accelerate human genomics research. In pharmacogenomics, assembling large, statistically…
March 2024
Miao, Deanne Nixie R., Ladha, Feryal, Lyle, Sarah M., Olivier, Daniel W., Ahmed, Samah, Drögemöller, Britt I.
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