基本信息
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Bio
I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:
Application of advanced genomic technology to identifying the causes of mental retardation;
Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and
Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy.
Application of advanced genomic technology to identifying the causes of mental retardation;
Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and
Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy.
Research Interests
Papers共 475 篇Author StatisticsCo-AuthorSimilar Experts
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medRxiv : the preprint server for health sciences (2024)
Whiwon Lee, Joyce Yan, Katharine Fooks, Abby Tafler, Pooja Banglorewala, Melanie Barwick,Mark Dobrow,Jan Friedman,Christian Marshall,Robin Hayeems
Genetics in Medicine Open (2024): 101376
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY (2024)
Dean A Regier, Rosalie Loewen,Brandon Chan, Morgan Ehman,Samantha Pollard,Jan M Friedman,Sylvia Stockler-Ipsiroglu, Clara van Karnebeek,Simone Race,Alison M Elliott,Nick Dragojlovic,Larry D Lynd,
Nature Reviews Geneticspp.1-24, (2024)
Genetics in Medicinepp.101173-101173, (2024)
Jan M Friedman,Yvonne Bombard,Bruce Carleton,Amalia M Issa,Bartha Knoppers,Sharon E Plon,Vasiliki Rahimzadeh,Mary V Relling, Marc S Williams, Clara van Karnebeek,Danya Vears,Martina C Cornel,
Genetics in medicine : official journal of the American College of Medical Geneticsno. 2 (2023): 101033-101033
Jan Friedman, Clara van Karnebeek
Neurodevelopmental Pediatricspp.547-568, (2023)
CURRENT ONCOLOGYno. 8 (2023): 7241-7251
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