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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 531 篇作者统计合作学者相似作者
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American journal of human geneticsno. 9 (2024): 1810-1818
Orphanet journal of rare diseasesno. 1 (2024)
Timothy Bergquist, Sarah L. Stenton, Emily A.W. Nadeau,Alicia B. Byrne,Marc S. Greenblatt, Steven M. Harrison,Sean V. Tavtigian, Anne O’Donnell-Luria,Leslie G. Biesecker,Predrag Radivojac,Steven E. Brenner, Vikas Pejaver, ClinGen Sequence Variant Interpretation Working Group
crossref(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,Huan Mo
Genetics in Medicine Open (2024): 101013
European journal of human genetics (2024)
Yordi-Michael Bouhatous,Cecilie Bredrup,Cecilie Rustad,Marc Bardou,Agnes Maurer,Maxime Luu,Pierre Vabres, Jean Emmanuel Kurtz,Elise Schaefer,Anne Guimier,Valerie Cormier-Daire, Jean-Baptiste Demoulin,Derek Lim,Ann Nordgren, Cristina Aguirre-Rodriguez, Unai Hernandez-Dorronsoro,Itziar Martinez-Soroa,Helena Iznardo,Silvia Kalantari,Alessandro Mussa,Diana Carli,Pawel Gawlinski, Ingrid Svinvik, Hatice Mutlu, Sara Bluefeather,Dinel Pond,Yuri Zarate,Tara Wenger,Leslie Biesecker,Kenjiro Kosaki,Christine Binquet,Alison Foster,Laurence Faivre
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 528-529
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Genetics in Medicine Open (2024): 101616
Genetics in Medicineno. 7 (2024): 101162-101162
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作者统计
#Papers: 531
#Citation: 31970
H-Index: 95
G-Index: 168
Sociability: 8
Diversity: 0
Activity: 4
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