Links to Publications

Check out our full list of publications here:

Pubmed: https://pubmed.ncbi.nlm.nih.gov/?term=stuart+turvey+

Orcid: https://orcid.org/0000-0003-1599-1065

Google Scholar: https://scholar.google.ca/citations?user=kyBC2zoAAAAJ&hl=en

Recent Publications

  1. Breastfeeding may lessen socioeconomic disparities in child health through differences in the infant gut microbiome.1
  2. Kiana published a paper: Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.2
  3. Prim3e Editing for p47phox-Deficient Chronic Granulomatous Disease.
  4. Mattison published a paper: Monogenic disorders of the IRF transcription factors.4
  5. Simran & Bhavi published a paper: ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.5
  6. Simran published a paper: STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.6
  7. Simran published a paper: A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.7
  8. A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.8
  9. Primary atopic disorders: inborn errors of immunity causing severe allergic disease.9
  10. How the early life microbiome shapes immune programming in childhood asthma and allergies.10

  1. Breastfeeding buffers the biological health impacts of low socioeconomic status in children by stabilizing the infant gut microbiota through B. infantis enrichment. ↩︎
  2. Long-read genome and RNA sequencing resolved a complex MEGF8 genotype in a rare Carpenter syndrome type 2 case, underscoring the diagnostic value of emerging sequencing technologies beyond conventional exome sequencing. ↩︎
  3. Prime editing of autologous CD34+ hematopoietic stem cells restored NADPH oxidase activity in two patients with p47-CGD, providing early clinical proof-of-concept for this gene correction approach. ↩︎
  4. Inborn errors of IRF transcription factors produce diverse immune and developmental phenotypes, and their study exemplifies how clinical and translational research together advance both patient care and fundamental human biology. ↩︎
  5. Biallelic germline variants in ASXL1, an epigenetic modifier not previously linked to immune disease, define a novel inborn error of immunity characterised by B cell loss, T cell exhaustion, and susceptibility to viral infections and associated malignancies. ↩︎
  6. A novel STAT6 gain-of-function variant expands the clinical phenotype of this rare disease and reports successful therapeutic management in two patients. ↩︎
  7. A de novo ThPOK variant with complex multimorphic activity causes the first reported human disease linked to this master CD4+ T cell regulator, presenting as T cell deficiency, allergy, interstitial lung disease, and fibrosis. ↩︎
  8. A germline dominant-negative HELIOS (IKZF2) variant underlying ICHAD syndrome drives broad immune dysregulation, including hyperactive CD4+ T cells, aberrant Tregs, and NK cell deficiency, illuminating HELIOS’s role in human immune homeostasis and tolerance. ↩︎
  9. Over 48 single-gene defects can cause primary atopic disorders, and recognising these monogenic allergic diseases, distinct from common polygenic atopy, is critical for accurate diagnosis and targeted treatment. ↩︎
  10. The infant gut microbiome shapes early immune development, and disruptions to its maturation and composition are increasingly linked to the rising prevalence of pediatric allergic disease pointing toward microbiome-targeted prevention and treatment strategies. ↩︎