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个人简介
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.
研究兴趣
论文共 463 篇作者统计合作学者相似作者
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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 MEDICINEno. 2 (2024): 101033-101033
JAMA NETWORK OPENno. 7 (2024): e2420842-e2420842
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
Nature Reviews Geneticsno. 7 (2024): 1-24
Genetics in Medicineno. 9 (2024): 101173-101173
BIRTH DEFECTS RESEARCHno. 14 (2023): 1261-1263
GENETICS IN MEDICINEno. 2 (2023): 100324-100324
Neurodevelopmental Pediatricspp.547-568, (2023)
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作者统计
#Papers: 462
#Citation: 29453
H-Index: 81
G-Index: 161
Sociability: 8
Diversity: 4
Activity: 39
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