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职业迁徙
个人简介
Research Interests: Use of genomic and bioinformatics tools to identify genetic causes of human disease. I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused on using new genomic technology and bioinformatics tools to identify mutations that cause intellectual disability and other neurodevelopmental disorders, and in applying what we learn to improve the clinical care of affected individuals and their families.
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论文共 411 篇作者统计合作学者相似作者
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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)
BIRTH DEFECTS RESEARCHno. 14 (2023): 1315-1321
Neurodevelopmental Pediatricspp.547-568, (2023)
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Julia Handra,Colleen Guimond,Isabel Jordan, Brenda Lenahan, Kelsey Ohs,Rhea Beauchesne,Shelin Adam,Jan M. Friedman,Patricia Birch
PEC Innovation (2022): 100039
BIRTH DEFECTS RESEARCHno. 9 (2022): 362-362
Human Genetics and Genomics Advancesno. 3 (2022): 100108
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