selected scholarly activity
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conferences
- Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening. Molecular Genetics and Metabolism. 336-337. 2012
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journal articles
- Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in Medicine. 24:2065-2078. 2022
- 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
- A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. Cold Spring Harbor Molecular Case Studies. 6:a004879-a004879. 2020
- Defining the clinical phenotype of Saul–Wilson syndrome. Genetics in Medicine. 22:857-866. 2020
- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. American Journal of Human Genetics. 106:356-370. 2020
- Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathologica. 139:415-442. 2020
- Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105:844-853. 2019
- Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase. Journal of Child Neurology. 34:778-781. 2019
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. American Journal of Human Genetics. 104:685-700. 2019
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS Genetics. 14:e1007671-e1007671. 2018
- A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics. 103:553-567. 2018
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. 102:1195-1203. 2018
- Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. Molecular Genetics and Metabolism Reports. 6:13-15. 2016
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder?. Pediatric Neurology. 53:535-540. 2015
- Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg). Biochemical Genetics. 52:225-232. 2014
- Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation. American Journal of Human Genetics. 92:632-636. 2013
- Potential teratogenic effects of allopurinol: A case report. American Journal of Medical Genetics, Part A. 155:2247-2252. 2011
- Genetic implications and health consequences following the Chernobyl nuclear accident. Clinical Genetics. 77:221-226. 2010