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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.
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Guibin Chen,Francesca Calcaterra,Yuchi Ma,Xianfeng Ping,Elena Pontarini,Dan Yang, Ferdinando Oriolo,Zhen Yu, Assunta Cancellara,Joanna Mikulak,Yuting Huang,Silvia Della Bella,
iSciencepp.108331-108331, (2023)
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PUBLIC HEALTH GENOMICSno. 1 (2023): 90-102
Annals of the American Thoracic Society (2022)
Emma H Wilcox,Mahdi Sarmady, Bryan Wulf,Matt W Wright,Heidi L Rehm,Leslie G Biesecker,Ahmad N Abou Tayoun
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