selected scholarly activity
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conferences
- A multimorphic variant in ThPOK causes a novel human disease characterized by T cell immune developmental abnormalities, immunodysregulation, atopy, and organ fibrosis. Clinical Immunology. 2024
- Development of the Canadian Inborn Errors of Immunity National Registry (CIEINR). Clinical Immunology. 2024
- LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity. Clinical Immunology. 2024
- Interstitial cystitis caused by immune dysregulation in LRBA deficiency: one among the rare urological manifestations in inborn errors of immunity. Clinical Immunology. 109414-109414. 2023
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journal articles
- A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency—An Ontario Single-Centre Experience Spanning 2013–2023. Genes. 15:920-920. 2024
- 58 Expanding the Phenotype of BCL11B Variants: A Novel Canadian Case Series. Clinical Immunology. 262:110000-110000. 2024
- Descriptive analysis of oral food challenge outcomes from a multicentre cohort study. Journal of Allergy and Clinical Immunology. 153:AB37-AB37. 2024
- Oral Food Challenge Outcomes at McMaster University Over Two-years. Journal of Allergy and Clinical Immunology. 149:AB111-AB111. 2022
- DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients. Pediatric Allergy and Immunology. 33:e13694. 2022
- Neonatal abstinence syndrome is a potential cause of low TREC copy number. Allergy, Asthma and Clinical Immunology. 17:115. 2021
- Leukocyte adhesion deficiency type II: A rare case of primary immune deficiency with unique finding of para-Bombay phenotype. LYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS. 7:122-151. 2020
- Effect of different conditioning regimens on survival and engraftment for children with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoeitic stem cell transplantation: A single institution experience. Pediatric Blood and Cancer. 67:e28477. 2020
- Report of the Canadian Expert Committee on the management of ADA deficiency. LymphoSign Journal. 7:109-115. 2020
- Positive newborn screen: a case of a novel variant in DCLRE1C in a patient with SCID. LymphoSign Journal. 7:46-48. 2020
- Report of the National Immunoglobulin Replacement Expert Committee: algorithm for diagnosis of immunodeficiency requiring antibody replacement therapy. LymphoSign Journal. 6:31-33. 2019
- Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience. Frontiers in Immunology. 10:2940. 2019
- Case of 22q11.2 Deletion Syndrome Not Identified by <i>TBX1</i> Screening with a Positive SCID Newborn Screen. LymphoSign Journal. 5:17-20. 2018