selected scholarly activity
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conferences
- VARIATION IN DIAGNOSTIC CARE AND DISEASE CLASSIFICATION STRATEGIES FOR PAH DEFICIENCY: UPDATED FINDINGS FROM THE CANADIAN INHERITED METABOLIC DISEASES RESEARCH NETWORK (CIMDRN). Molecular Genetics and Metabolism. 244-245. 2018
- A REDCap database to support longitudinal follow-up of pediatric patients with inborn errors of metabolism. Clinical Biochemistry. 138-138. 2014
- Building a pan-Canadian practice-based research network for inherited metabolic diseases: The first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Clinical Biochemistry. 137-138. 2014
- Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada. Clinical Biochemistry. 152-152. 2014
- The importance of challenging phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU). Clinical Biochemistry. 151-152. 2014
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journal articles
- Sirenomelia: An anatomical assessment and genetic sex determination of two cases. Journal of Anatomy. 244:1093-1101. 2024
- Family‐centred care interventions for children with chronic conditions: A scoping review. Health Expectations. 27:e13897. 2024
- Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. BMC Pediatrics. 24:37. 2024
- Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study. BMJ Open. 12:e055664-e055664. 2022
- Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria. Pediatrics. 148:e2020037747. 2021
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nature Genetics. 53:1006-1021. 2021
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics. 108:502-516. 2021
- 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. Orphanet Journal of Rare Diseases. 15:89. 2020
- Genetics of Colloid Cyst in Monozygotic Twins: Case Report and Review of Literature. World Neurosurgery. 144:88-91. 2020
- Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. Orphanet Journal of Rare Diseases. 15:12. 2020
- Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series. Movement Disorders Clinical Practice. 7:834-837. 2020
- A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 577:109-114. 2020
- Bridging the gap in genetics: a progressive model for primary to specialist care. BMC Medical Education. 19:195. 2019
- Atypical late presentation of galactosemia. Canadian Journal of Ophthalmology. 54:e194-e196. 2019
- Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature. JIMD Reports. 46:28-34. 2019
- Primary care providers’ lived experiences of genetics in practice. Journal of Community Genetics. 10:85-93. 2019
- Student Reflections on the Queen’s Accelerated Route to Medical School Programme. Journal of Medical Education and Curricular Development. 6:238212051983678-238212051983678. 2019
- 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. PLoS ONE. 13:e0209018-e0209018. 2018
- SAMHD1 Mutations Are Also Responsible for Aicardi–Goutières in the Cree Population. Canadian Journal of Neurological Sciences. 44:749-751. 2017
- Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. American Journal of Human Genetics. 101:206-217. 2017
- Parents’ Understanding of Genetics and Heritability. Journal of Genetic Counseling. 26:541-547. 2017
- Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. American Journal of Human Genetics. 100:91-104. 2017
- Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature. Case Reports in Pediatrics. 2016:1-6. 2016
- Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease. BMC Pediatrics. 15:7. 2015
- Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014). Molecular Genetics and Metabolism. 116:146-151. 2015
- Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency. Journal of Pediatric and Adolescent Gynecology. 28:e101-e103. 2015
- Congenital Myopathy With Cap-Like Structures and Nemaline Rods: Case Report and Literature Review. Pediatric Neurology. 51:192-197. 2014
- X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4. American Journal of Audiology. 23:1-6. 2014
- Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Molecular Genetics and Metabolism. 111:16-25. 2014
- Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. JIMD Reports. 21:15-22. 2014
- Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation. Clinical Genetics. 83:191-194. 2013
- Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.. Canadian Family Physician. 59:e39-e47. 2013
- Noninvasive investigation of asymmetrically conjoined tripus twins with features of rachipagus, parapagus dicephalus, and cephalopagus. Clinical Anatomy. 25:1023-1029. 2012
- Attitudes of medical clerks toward persons with intellectual disabilities.. Canadian Family Physician. 58:e282-e288. 2012
- Genetic education for primary care providers: improving attitudes, knowledge, and confidence.. Canadian Family Physician. 55:e92-e99. 2009
- Medical students' views on training in intellectual disabilities.. Canadian Family Physician. 54:568-569.e6. 2008