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个人简介
I am a pediatrician and clinical geneticist who has used the unusual patient to study gene action, natural history, and the recognition of non-traditional mechanisms of genetic disease. I have emphasized the tissue-specific and time-specific nature of gene expression as well as the changes of gene expression during embryonic/fetal/childhood development. I enjoy synthesizing complex genetic information and communicate to all levels of audience.
I have contributed in many leadership roles, including Presidency of the American Society of Human Genetics and the American Pediatrics Society, during which I reshaped their priorities and commitments. I’ve served on numerous national and international committees and boards and have received many honours for my scientific contributions and lifetime achievements. Among my publications are summary reviews and articles that are considered classics, having introduced aspects of the new genetics. I have advocated for folic acid supplementation, pediatric physician resources, the development of specific disease health guidelines, and research on rare genetic disorders and natural history.
研究兴趣
论文共 495 篇作者统计合作学者相似作者
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Shahrzad Nematollahi,Klaus Dieterich, Isabel Filges, Johanna I P De Vries,Harold Van Bosse,Daniel Natera de Benito,Judith G Hall,Bonita Sawatzky,Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan,
Developmental medicine and child neurology (2024)
Shahrzad Nematollahi,Klaus Dieterich, Isabel Filges, Johanna I P De Vries,Harold Van Bosse,Daniel Natera de Benito,Judith G Hall,Bonita Sawatzky, Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan,
Shahrzad Nematollahi,Klaus Dieterich,Isabel Filges, Johanna I. P. De Vries,Harold Van Bosse, Daniel Natera-De Benito,Judith G. Hall,Bonita Sawatzky,Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan,
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2024)
Shahrzad Nematollahi,Klaus Dieterich, Isabel Filges, Johanna I. P. De Vries, Harold Van Bosse, Daniel Natera de Benito,Judith G. Hall, Bonita Sawatzky,Tanya Bedard, Victoria Castillo Sanchez, Carolina Navalon-Martinez, Tony Pan,
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2024)
AMERICAN JOURNAL OF MEDICAL GENETICS PART App.e63514-e63514, (2024)
American journal of medical genetics. Part Ano. 12 (2023): 2801-2805
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AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 3 (2023): 659-671
Noémi Dahan-Oliel,Harold van Bosse,Vasiliki Betty Darsaklis,Frank Rauch,Tanya Bedard,Ghalib Bardai,Michelle James,Ellen Raney, Krister Freese, Lauren Hyer,Haluk Altiok, Jonathan Pellett,
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