A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Y. Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J. Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G. Ekert, Christiane Theda, Paul A. James, Joy Yaplito-Lee, Monique M. Ryan, Richard J. LeventerEmma Creed, Ivan Macciocca, Katrina M. Bell, Alicia Oshlack, Simon Sadedin, Peter Georgeson, Charlotte Anderson, Natalie Thorne, Clara Gaff, Susan M. White, Melbourne Genomics Health Alliance

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Medicine & Life Sciences