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个人简介
Dr. Biesecker is a clinical and molecular geneticist and is the chief of the Medical Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health. He uses genetic and genomic technologies to study the etiology of inherited disorders. He received his medical training at the University of Illinois, training in pediatrics at the University of Wisconsin, and in clinical and molecular genetics at the University of Michigan. His laboratory has elucidated the etiology and natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, Lenz microphthalmia syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, Pallister-Hall syndrome and Amish microcephaly, and has contributed to the discovery of many others. In addition, he developed the ClinSeq® program, which has consented more than 1,000 subjects for whole-genome sequencing with the interpretation and return of results. He co-directs a Clinical Laboratory Improvement Ammendments (CLIA)-certified molecular diagnostic laboratory within NHGRI.
Dr. Biesecker serves as an editor or board member for four biomedical journals, is an advisor to the Illumina Corporation and was a member of the board of directors for the American Society of Human Genetics. He served on advisory panels for the World Trade Center and Hurricane Katrina victim identification efforts.
研究兴趣
论文共 328 篇作者统计合作学者相似作者
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Orphanet Journal of Rare Diseasesno. 1 (2024): 1-10
Sarah L Stenton,Vikas Pejaver, Timothy Bergquist,Leslie G Biesecker,Alicia B Byrne, Emily Nadeau,Marc S Greenblatt,Steven Harrison,Sean Tavtigian,Predrag Radivojac,Steven E Brenner,Anne O'Donnell-Luria,
medrxiv(2024)
Cassia Williams-Rogers,Tam Tran,Caralynn Wilczewski, Felicia Akinwande, Nicholas Singh-Miller, Ashley Glasper, Yeabsira Tufa,Tracey Ferrara,Jennifer Johnston,Leslie Biesecker,Joshua Denny, Clesson Turner,
Genetics in Medicine Open (2024): 101013
European Journal of Human Geneticspp.1-8, (2024)
Genetics in Medicine Open (2024): 101616
Leslie Biesecker,Alicia Byrne,Steven Harrison,Tina Pesaran, Alejandro Schäffer,Brian Shirts,Sean Tavtigian,Heidi Rehm
Genetics in Medicine Open (2024)
Genetics in Medicine Open (2024): 101052
crossref(2024)
The American Journal of Human Geneticsno. 1 (2024): 24-38
Sarah L Stenton,Vikas Pejaver, Timothy Bergquist,Leslie G Biesecker,Alicia B Byrne, Emily Nadeau,Marc S Greenblatt,Steven Harrison,Sean Tavtigian,Predrag Radivojac,Steven E Brenner,Anne O'Donnell-Luria,
medrxiv(2024)
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