Research
Read how they describe their research on their University of Ottawa profile.
Latest papers
Association of Dual-Task Gait Cost and White Matter Hyperintensity Burden Poststroke: Results From the ONDRI
Journal of Neurologic Rehabilitation · 2023
Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Molecular genetics and metabolism · 2020
In reference to should infants who fail their newborn hearing screen undergo cytomegalovirus testing?
The Laryngoscope · 2018
Latest funding
- $100,000
Relative benefits and cost effectiveness of universal newborn screening for cytomegalovirus by saliva versus dried blood spot PCR
CIHR · 2017 · Principal investigator
- $341,391
Mutations in a long non-coding RNA cause Myoclonus Dystonia
CIHR · 2015 · Nominated PI
- $105,000
Identification of genes, mechanisms and therapeutic opportunities for spinocerebellar ataxia
CIHR · 2013 · Supervisor
5 publications.
Association of Dual-Task Gait Cost and White Matter Hyperintensity Burden Poststroke: Results From the ONDRI
Pieruccini-Faria F, Cornish B, Binns M, Fraser J, Haddad SMH, Sunderland K, Ramirez J, Beaton D, Kwan D, Dilliott AA
Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Verbeeten KC, Lamhonwah AM, Bulman D, Faghfoury H, Chakraborty P, Tein I, Geraghty MT
In reference to should infants who fail their newborn hearing screen undergo cytomegalovirus testing?
Gantt S, Goldfarb DM, Dionne F, Bulman D, Doutré SM
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA, FORGE Canada Consortium, Majewski J, Bulman D, Boycott KM, Dyment DA
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR
Relative benefits and cost effectiveness of universal newborn screening for cytomegalovirus by saliva versus dried blood spot PCR
Principal investigators: Brophy, Jason C; Bitnun, Sean A; Bulman, Dennis E; Chakraborty, Pranesh K; Gantt, Soren M; Goldfarb, David M
Keywords: Congenital Infection; Cost Effectiveness; Cytomegalovirus; Diagnostics; Newborn Screening
Mutations in a long non-coding RNA cause Myoclonus Dystonia
Principal investigators: Bulman, Dennis E
Keywords: Disease; Dystonia; Genes; Myoclonus; Non Coding Rna; Rare Disease
Identification of genes, mechanisms and therapeutic opportunities for spinocerebellar ataxia
Principal investigators: McDonell, Laura M
Keywords: Autosomal Dominant Spinocerebellar Ataxia; Disease Modulation; Elucidation Of Disease Mechansims; Exome Sequencing; Franco-Ontarian; Gene Identification
Understanding the molecular basis of genetic epilepsy
Principal investigators: Dyment, David A
Keywords: Channelopathies; Epilepsy; Idiopathic Generalized Epilepsy; Next Generation Sequencing
Understanding the molecular etiology of idiopathic generalized epilepsy
Principal investigators: Dyment, David A
Keywords: Channelopathies; Epilepsy; Idiopathic Generalized Epilepsy; Next Generation Sequencing
Identification and characterization of the gene responsible for autosomal dominant spinocerebellar ataxia in the Franco-Ontarian population
Principal investigators: McDonell, Laura M
Keywords: Bioinformatics; Franco Ontarian Spinocerebellar Ataxia; Functional Studies; Linkage Studies; Microsatellite Mapping; Neurodegeneration; Neurogenetics; Next Generation Sequencing; Polymerase Chain Reaction; Sanger Sequencing
To identify, validate and characterize the gene on 18p which is responsible for causing Myoclonus-Dystonia (MD)
Principal investigators: Vanstone, Megan R
Keywords: Animal Model; Genetic Disorders; Genetics; Mutation Identification; Mutation Screening; Myoclonus-Dystonia; Nervous System; Next-Generation Sequencing; Sequence Capture Microarray; Sequencing Critical Region Of Gene
Identification of Genes and Pathways for Rare Mendelian Neurological Disease
Principal investigators: Boycott, Kym M
Keywords: Gene Identification; Mendelian Disease; Neurodegeneration; Neurodevelopment; Neurogenetics
Finding of Rare Disease Genes in Canada (FORGE CANADA)
Principal investigators: Boycott, Kym M; Friedman, Jan M; Michaud, Jacques L
Keywords: Gene Identification; Mendelian Disorders; Rare Disease
Training in Statistical Genetics and Epidemiological Research (TRIGGER)
Principal investigators: Little, Julian
Keywords: Bioinformatics; Collaborative; Ethics; Genetic Epidemiology; Graduate Education; Interdisciplinary; Legal Issues; Public Health Genomics; Social Implications; Statistical Genetics
From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.
Frequent collaborators
- Pediatrics
- Department of Medicine
- Pathology and Laboratory Medicine
- Biostatistics Division
- Medicine
- Tanz Centre for Research in Neurodegenerative Diseases
- Department of Epidemiology and Biostatistics
- Other
Co-authors at University of Ottawa, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Manuel Montero Odasso
Department of Epidemiology and Biostatistics
1 shared papers, latest 2023
Jean McGowan-Jordan
Pathology and Laboratory Medicine
1 shared papers, latest 2012
Ekaterina Rogaeva
Tanz Centre for Research in Neurodegenerative Diseases
1 shared papers, latest 2023
Melissa Holmes
Faculty
1 shared papers, latest 2023
Sali Farhan
Neurology and Neurosurgery
1 shared papers, latest 2023
Dar Dowlatshahi
Department of Medicine
1 shared papers, latest 2023
Olga Jarinova
Pathology and Laboratory Medicine
1 shared papers, latest 2012
Gustavo Saposnik
Department of Medicine
1 shared papers, latest 2023
Malcolm Binns
Biostatistics Division
1 shared papers, latest 2023
Wendy Lou
Biostatistics Division
1 shared papers, latest 2023
Demetrios Sahlas
Medicine
1 shared papers, latest 2023
Robert Bartha
Biochemistry
1 shared papers, latest 2023
Soren Gantt
Pediatrics
1 shared papers, latest 2018
Robert Hegele
John P. Robarts Research Institute
1 shared papers, latest 2023
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Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.