Department of Biomedical Sciences, SNU

2010년1학기 우수의과학자 초청 세미나 6주차

  • 연사 : 최 무 림 박사(Yale Univ.)
  • 연제 : Application of next-generation sequencing technique: Genetic diagnosis by whole exome sequencing
  • 일시 : 2010년 4월 22일(목) AM 10:00
  • 장소 : 의생명과학관 115호
  • 문의 : 02-740-8095
주요발표논문 Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. USA. 2009 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. USA. 2009 Chordin is a modifier of Tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PloS Genet. 2009 Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat. Genet. 2008 The bone morphogenetic protein antagonist Noggin regulates mammalian cardiac morphogenesis. Circ. Res. 2007