Jan Marshall Friedman


Research Classification

Genetics and Heredity
Developmental Genetics

Research Interests

Application of whole genome sequencing to diagnose genetic disease
Clinical genomics
Birth defects epidemiology

Relevant Degree Programs



Doctoral students
Some financial support is available
Any time / year round

* Improving the sensitivity of whole genome sequencing as a clinical test for genetic causes of intellectual disability
* Development and evaluation of genetic e-counselling for clinical whole genome sequencing
* Which maternal medications can harm the developing human embryo?
* Improving the clinical care of patients with neurofibromatosis 1, an autosomal dominant multisystem disease


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