selected scholarly activity
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conferences
- Contribution of rare coding variants to complex trait heritability. Genetic Epidemiology. 523-523. 2022
- A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets. Genetic Epidemiology. 490-490. 2021
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journal articles
- Genetic Determinants of Vascular Dementia. Canadian Journal of Cardiology. 40:1412-1423. 2024
- What Causes Premature Coronary Artery Disease?. Current Atherosclerosis Reports. 26:189-203. 2024
- The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions. Genes. 15:332-332. 2024
- A method to estimate the contribution of rare coding variants to complex trait heritability. Nature Communications. 15:1245. 2024
- A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets. Nature Communications. 14:5196. 2023
- Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa. Clinical Genetics. 102:524-529. 2022
- Comparative Natural History of Visual Function From Patients With Biallelic Variants inBBS1andBBS10. Investigative Ophthalmology and Visual Science. 62:26-26. 2021
- COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage. Scientific Reports. 10:21269. 2020
- DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine. 22:2041-2051. 2020
- CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genetics. 41:457-464. 2020
- Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. Investigative Ophthalmology and Visual Science. 61:36-36. 2020
- Biomarkers of agitation and aggression in Alzheimer's disease: A systematic review. Alzheimer's and Dementia. 14:1344-1376. 2018
- CDC42 regulates the expression of superficial zone molecules in part through the actin cytoskeleton and myocardin‐related transcription factor‐A. Journal of Orthopaedic Research. 36:2421-2430. 2018