selected scholarly activity
-
chapters
- Metabolic Syndrome. 47-63. 2018
- Metabolic Syndrome. 283-299. 2017
- Stroke. 655-665. 2013
- The Metabolic Syndrome. 1006-1016. 2013
- Stroke. 655-665. 2012
- The Metabolic Syndrome. 1006-1016. 2012
- A translational view of the genetics of lipodystrophy and ectopic fat deposition.. Progress in Molecular Biology and Translational Science. 159-196. 2010
-
conferences
- Type IV Collagen Variants in Patients With Polycystic Kidneys. Journal of the American Society of Nephrology. 152-152. 2022
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International. 1126-1141. 2022
- Retrospective Evaluation of Patients Referred for Hemochromatosis Genetic Testing. Blood. 4035-4035. 2014
- Extremes of Atherosclerosis Unexplained by Traditional Risk Factors: An Efficient Approach for Genome-Wide Association Studies of Cardiovascular Disease. Arteriosclerosis, Thrombosis and Vascular Biology. E184-E184. 2010
- Genetic Variation in Hyaluronan Metabolism Genes (HYAL1, HABP2) Is Associated with Plasma Plasminogen Activator Inhibitor-1 Concentration. Arteriosclerosis, Thrombosis and Vascular Biology. E220-E220. 2010
- Genome-Wide Association Study of Patients with Severe Hypertriglyceridemia. Arteriosclerosis, Thrombosis and Vascular Biology. E208-E208. 2010
- ISSUES REGARDING GENETIC TESTING FOR SCHIZOPHRENIA RISK AND FOR ANTIPSYCHOTIC DRUG EFFECTS. Schizophrenia Research. 129-129. 2010
- Replication of Loci Affecting Plasma Lipoproteins and Triglycerides Using a Targeted Cardiovascular SNP Microarray in a Multiethnic Sample. Arteriosclerosis, Thrombosis and Vascular Biology. E59-E59. 2009
- A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy of childhood. Hormone Research in Paediatrics. 187-187. 2008
- Dr Paul Janssen research award winner presentation: Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia. International Clinical Psychopharmacology. A28-A28. 2007
- "Rapid cycling" mainly determines significant findings between the BDNF gene and bipolar disorder. American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics. 45-46. 2004
- A potential role for brain derived neurotrophic factor (BDNF) in adult ADHD. American Journal of Medical Genetics, Part A. 96-97. 2004
- An integrative database for genetic epidemiological studies. American Journal of Medical Genetics, Part A. 153-154. 2004
- Association study of the G72 and D-amino-acid oxidase (DAAO) genes in schizophrenia. American Journal of Medical Genetics, Part A. 135-135. 2004
-
journal articles
- Educating the Next-Generation Expert in Nephrology Genetics.. Seminars in Nephrology. 151648. 2025
- Authors' Reply: Clonal Hematopoiesis of Indeterminate Potential and Cardiovascular Events: Issues to Be Further Explored.. Journal of the American Society of Nephrology. 2025
- Endoplasmic reticulum stress as a driver and therapeutic target for kidney disease.. Nature Reviews Nephrology. 21:299-313. 2025
- Association of Clonal Hematopoiesis of Indeterminate Potential with Cardiovascular Events in Patients with CKD.. Journal of the American Society of Nephrology. 2025
- Clonal Hematopoiesis of Indeterminate Potential and Progression of CKD.. Journal of the American Society of Nephrology. 2025
- Polygenic risk scores for eGFR are associated with age at kidney failure.. Journal of Nephrology. 38:969-978. 2025
- [Not Available].. CANADIAN MEDICAL ASSOCIATION JOURNAL. 197:E165-E166. 2025
- Ancestral Variability in the Genetic Architecture of Urine Uromodulin.. Kidney International Reports. 10:10-11. 2025
- Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function.. Transplant International. 38:14171. 2025
- Glucagon-like peptide-1 receptor agonists for treating chronic kidney disease in patients with type 2 diabetes.. CANADIAN MEDICAL ASSOCIATION JOURNAL. 196:E1345. 2024
- Reporting of Race, Ethnicity, and Ancestry Remains Inadequate in Kidney Research.. Kidney International Reports. 9:3328-3331. 2024
- Whole body resistance training on functional outcomes of patients with Stage 4 or 5 chronic kidney disease: A systematic review. Physiological Reports. 12:e16151. 2024
- Clonal hematopoiesis of indeterminate potential contributes to accelerated chronic kidney disease progression. medRxiv. 2024.06.19.24309181. 2024
- Kidney Volume and Risk of Incident Kidney Outcomes. Journal of the American Society of Nephrology. 35:1240-1251. 2024
- How Does ADPKD Severity Differ Between Family Members?. Kidney International Reports. 9:1198-1209. 2024
- Clonal haematopoiesis, ageing and kidney disease. Nature Reviews Nephrology. 20:161-174. 2024
- Clonal hematopoiesis of indeterminate potential is associated with acute kidney injury. Nature Medicine. 30:810-817. 2024
- Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas. Cell Genomics. 4:100468-100468. 2024
- Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease. Canadian Journal of Kidney Health and Disease. 11:20543581241232470. 2024
- Proteome-Wide Changes in Blood Biomarkers During Hemodialysis. Kidney International Reports. 9:177-181. 2024
- A novel multi-ancestry proteome-wide Mendelian randomization study implicates extracellular proteins, tubular cells, and fibroblasts in estimated glomerular filtration rate regulation. Kidney International. 104:1170-1184. 2023
- Decoding Loin Pain Hematuria Syndrome: In-Depth Review of Clinical Characteristics and Family History. Kidney International Reports. 8:2826-2829. 2023
- Infection risk associated with clonal hematopoiesis of indeterminate potential is partly mediated by hematologic cancer transformation in the UK Biobank. Leukemia. 37:2306-2308. 2023
- Les inhibiteurs du cotransporteur sodium–glucose de type 2 pour les personnes non diabétiques. CANADIAN MEDICAL ASSOCIATION JOURNAL. 195:E1159-E1160. 2023
- Assessing the Risk of Progression to Kidney Failure in Patients With Autosomal Dominant Polycystic Kidney Disease. Advances in Kidney Disease and Health. 30:407-416. 2023
- Incorporating Linear Mixed Models into GWAS of Kidney Function Decline. Journal of the American Society of Nephrology. 34:1473-1475. 2023
- A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic datasets. Blood. 141:2214-2223. 2023
- Evidence for Kidney Volume as a Measure of ADPKD Severity “Marches On” in the OVERTURE Study. Kidney International Reports. 8:951-953. 2023
- Kidney Biopsy and Type IV Collagen Gene Sequencing Fail to Explain Hematuria in Loin Pain Hematuria Syndrome. Kidney International Reports. 8:1013-1021. 2023
- Sodium–glucose cotransporter-2 inhibitors in patients without diabetes. CANADIAN MEDICAL ASSOCIATION JOURNAL. 195:E619-E619. 2023
- Clonal Hematopoiesis of Indeterminate Potential and Kidney Function Decline in the General Population. American Journal of Kidney Diseases. 81:329-335. 2023
- Complex PKD1 Genetics in Early-Onset Cystic Kidney Disease. Kidney360. 4:297-298. 2023
- Atypical Polycystic Kidney Disease as defined by Imaging. Scientific Reports. 13:2952. 2023
- Basic Research Protocol: Exome Sequencing in Adults With Loin Pain Hematuria Syndrome: A Pilot Study. Canadian Journal of Kidney Health and Disease. 10:20543581231183856. 2023
- The Good and the Bad of SHROOM3 in Kidney Development and Disease: A Narrative Review. Canadian Journal of Kidney Health and Disease. 10:20543581231212038. 2023
- Response to: “Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study”. Kidney International Reports. 7:2543-2543. 2022
- ACLY and CKD: A Mendelian Randomization Analysis. Kidney International Reports. 7:1673-1681. 2022
- Association of Clonal Hematopoiesis of Indeterminate Potential with Worse Kidney Function and Anemia in Two Cohorts of Patients with Advanced Chronic Kidney Disease. Journal of the American Society of Nephrology. 33:985-995. 2022
- Elevated Lipoprotein(a) and Risk of Atrial Fibrillation. Journal of the American College of Cardiology. 79:1579-1590. 2022
- ATP-citrate lyase as a therapeutic target in chronic kidney disease: a Mendelian Randomization analysis 2021
- Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies. American Society of Nephrology. Clinical Journal. 16:790-799. 2021
- Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD. American Society of Nephrology. Clinical Journal. 16:374-383. 2021
- Preprint Servers in Kidney Disease Research. American Society of Nephrology. Clinical Journal. 16:479-486. 2021
- The Impact of COVID-19 on Patients With ADPKD. Canadian Journal of Kidney Health and Disease. 8:205435812110564-205435812110564. 2021
- Moving Nephrology Genetics into Clinical Care. Kidney360. 1:1040-1041. 2020
- Quality Appraisal and Assurance Techniques for Free Open Access Medical Education (FOAM) Resources: A Rapid Review. Seminars in Nephrology. 40:309-319. 2020
- Microscopic hematuria. CANADIAN MEDICAL ASSOCIATION JOURNAL. 192:E370-E370. 2020
- Improving Sexual Function in People With Chronic Kidney Disease: A Narrative Review of an Unmet Need in Nephrology Research. Canadian Journal of Kidney Health and Disease. 7:205435812095220-205435812095220. 2020
- Proceedings From a Canadian Nephrology Forum: Nephrology Is Back. Canadian Journal of Kidney Health and Disease. 7:205435812096500-205435812096500. 2020
- Does elevated urinary Dkkopf-3 level predict vulnerability to kidney injury during cardiac surgery?. ANNALS OF TRANSLATIONAL MEDICINE. 7:S296-S296. 2019
- Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation. 34:1453-1460. 2019
- Intrafamilial Variability of ADPKD. Kidney International Reports. 4:995-1003. 2019
- Exome sequencing of Saudi Arabian patients with ADPKD. Renal Failure. 41:842-849. 2019
- Genome-Wide Study Updates in the International Genetics and Translational Research in Transplantation Network (iGeneTRAiN). Frontiers in Genetics. 10:1084. 2019
- Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations. BMC Nephrology. 19:88. 2018
- Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. Journal of the American Society of Nephrology. 29:2593-2600. 2018
- HDL Cholesterol, LDL Cholesterol, and Triglycerides as Risk Factors for CKD: A Mendelian Randomization Study. American Journal of Kidney Diseases. 71:166-172. 2018
- Opportunities and Challenges for Genetic Studies of End-Stage Renal Disease in Canada. Canadian Journal of Kidney Health and Disease. 5:205435811878936-205435811878936. 2018
- Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. BioData Mining. 10:25. 2017
- New treatment paradigms for ADPKD: moving towards precision medicine. Nature Reviews Nephrology. 13:750-768. 2017
- Autosomal dominant polycystic kidney disease. CANADIAN MEDICAL ASSOCIATION JOURNAL. 189:E1396-E1396. 2017
- Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel. European Journal of Haematology. 98:228-234. 2017
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts. Human Genetics. 136:165-178. 2017
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. Genome Medicine. 7:90. 2015
- Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration. Journal of Lipid Research. 56:1781-1786. 2015
- A 42-year-old man with elevated ferritin. CANADIAN MEDICAL ASSOCIATION JOURNAL. 187:820-821. 2015
- Mendelian randomization of blood lipids for coronary heart disease. European Heart Journal. 36:539-550. 2015
- Examining the Clinical Use of Hemochromatosis Genetic Testing. Canadian Journal of Gastroenterology and Hepatology. 29:41-45. 2015
- Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data. The BMJ. 349:g4164-g4164. 2014
- Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations. Human Molecular Genetics. 23:2498-2510. 2014
- Positive perception of pharmacogenetic testing for psychotropic medications. Human Psychopharmacology. 29:287-291. 2014
- Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci. American Journal of Human Genetics. 94:349-360. 2014
- Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. American Journal of Human Genetics. 94:198-208. 2014
- Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis. American Journal of Human Genetics. 94:312-312. 2014
- Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations. American Journal of Human Genetics. 93:545-554. 2013
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics. 22:3394-3395. 2013
- Loci influencing blood pressure identified using a cardiovascular gene-centric array. Human Molecular Genetics. 22:1663-1678. 2013
- Causal Relationship between Adiponectin and Metabolic Traits: A Mendelian Randomization Study in a Multiethnic Population. PLoS ONE. 8:e66808-e66808. 2013
- Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. Human Molecular Genetics. 22:184-201. 2013
- BRCA2 Variants and cardiovascular disease in a multi-ethnic study. BMC Medical Genetics. 13:56. 2012
- Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci. American Journal of Human Genetics. 91:823-838. 2012
- Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics. 90:1116-1117. 2012
- Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. American Journal of Human Genetics. 90:753-753. 2012
- Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci. American Journal of Human Genetics. 90:410-425. 2012
- Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia. Circulation. Genomic and precision medicine. 5:66-72. 2012
- Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations. PLoS ONE. 7:e50198-e50198. 2012
- An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia. Arteriosclerosis, Thrombosis and Vascular Biology. 31:1916-1926. 2011
- Genetic risk factors for stroke in the genome-wide association era. Expert Opinion on Medical Diagnostics. 5:75-84. 2011
- Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics. 88:6-18. 2011
- Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling. American Journal of Human Genetics. 87:757-767. 2010
- Genetic variation in hyaluronan metabolism loci is associated with plasma plasminogen activator inhibitor-1 concentration. Blood. 116:2160-2163. 2010
- Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nature Genetics. 42:684-687. 2010
- Translating Genomic Analyses into Improved Management of Coronary Artery Disease. Future Cardiology. 6:507-521. 2010
- Phenomics: expanding the role of clinical evaluation in genomic studies.. Journal of Investigative Medicine. 58:700-706. 2010
- Advances in Genomic Analysis of Stroke. Stroke. 41:825-832. 2010
- Extremes of Unexplained Variation as a Phenotype. Circulation. Genomic and precision medicine. 3:215-221. 2010
- Comprehensive Analysis of Genomic Variation in the LPA Locus and Its Relationship to Plasma Lipoprotein(a) in South Asians, Chinese, and European Caucasians. Circulation. Genomic and precision medicine. 3:39-46. 2010
- Multi-Ethnic Genetic Association Study of Carotid Intima-Media Thickness Using a Targeted Cardiovascular SNP Microarray. Stroke. 40:3173-3179. 2009
- Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. Journal of Lipid Research. 50:1487-1496. 2009
- A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems. American Journal of Human Genetics. 84:822-822. 2009
- Determination of lipoprotein(a) kringle repeat number from genomic DNA: copy number variation genotyping using qPCR. Journal of Lipid Research. 50:768-772. 2009
- A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems. American Journal of Human Genetics. 84:134-147. 2009
- Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease. Genome Medicine. 1:28-28. 2009
- Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report. Journal of Medical Case Reports. 3:8867-8867. 2009
- Genetic testing for atherosclerosis risk: Inevitability or pipe dream?. Canadian Journal of Cardiology. 24:851-854. 2008
- Association study of brain‐derived neurotrophic factor (BDNF) and LIN‐7 homolog (LIN‐7) genes with adult attention‐deficit/hyperactivity disorder. American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics. 147B:945-951. 2008
- Investigation of the dopamine D5 receptor gene (DRD5) in adult attention deficit hyperactivity disorder. Neuroscience Letters. 432:50-53. 2008
- Copy number variation in metabolic phenotypes. Cytogenetic and Genome Research. 123:169-175. 2008
- Association analyses of the DAOA/G30 and d-amino-acid oxidase genes in schizophrenia: Further evidence for a role in schizophrenia. NeuroMolecular Medicine. 9:169-177. 2007
- Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). Clinical Genetics. 71:183-186. 2007
- Brain-derived neurotrophic factor variants are associated with childhood-onset mood disorder: confirmation in a Hungarian sample. Molecular Psychiatry. 10:861-867. 2005
- Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia. International Journal of Neuropsychopharmacology. 8:245-253. 2005
- PedSplit: pedigree management for stratified analysis. Bioinformatics. 20:2315-2316. 2004
- Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD. American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics. 127B:65-67. 2004
- Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24. Molecular Psychiatry. 8:488-498. 2003
-
preprints