JB
Joanne Berghout
NIAID, Pfizer, Carleton University, McGill University, The University of Arizona
0000-0002-9250-9159
Employment
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NIAID Human Computational Genomics Specialist2023 - Present
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Pfizer Senior Principal Computational Geneticist2020 - 2023
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The University of Arizona Research Assistant Professor2016 - 2020
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Jackson Laboratory Outreach Coordinator2012 - 2016
Education
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Carleton University BSc
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McGill University PhD? - 2014
Projects & Funding
Projects & funding information is unavailable.
Publications (55)
- Novel Genetic Loci for Nontuberculous Mycobacterial Pulmonary Disease and Potential Protective Effect of Body Mass Index. Save
- Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants. Save
- TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project. Save
- IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes. Save
- Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants Save
- Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe Save
- Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project. Save
- Prevalence and Clinical Burden of Idiopathic Dilated Cardiomyopathy in the United States. Save
- 'Single-subject studies'-derived analyses unveil altered biomechanisms between very small cohorts: implications for rare diseases. Save
- “Single-subject studies”-derived analyses unveil altered biomechanisms between very small cohorts: implications for rare diseases Save