基本信息
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Career Trajectory
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 450 篇Author StatisticsCo-AuthorSimilar Experts
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引用量
主题
期刊级别
合作者
合作机构
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
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY (2024)
Nature Reviews Geneticspp.1-24, (2024)
Genetics in medicinepp.101173-101173, (2024)
Genetics in medicinepp.101033-101033, (2023)
Neurodevelopmental Pediatricspp.547-568, (2023)
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Author Statistics
#Papers: 461
#Citation: 28003
H-Index: 81
G-Index: 157
Sociability: 8
Diversity: 4
Activity: 34
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
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