著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Zornitza Stark and Tiong Y. Tan and Belinda Chong and Gemma R. Brett and Patrick Yap and Maie Walsh and Alison Yeung and Heidi Peters and Dylan Mordaunt and Shannon Cowie and David J. Amor and Ravi Savarirayan and George McGillivray and Lilian Downie and Paul G. Ekert and Christiane Theda and Paul A. James and Joy Yaplito-Lee and Monique M. Ryan and Richard J. Leventer and Emma Creed and Ivan Macciocca and Katrina M. Bell and Alicia Oshlack and Simon Sadedin and Peter Georgeson and Charlotte Anderson and Natalie Thorne and Clara Gaff and Susan M. White,A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders,Genetics in Medicine,1098-3600,Elsevier BV,2016-11,18,11,1090-1096,https://cir.nii.ac.jp/crid/1360857597844744960,https://doi.org/10.1038/gim.2016.1