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29. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System. ; Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z JAMA; 2020 Jun; 323(24):2503-2511. PubMed ID: 32573669 [TBL] [Abstract][Full Text] [Related]
30. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Miller DT; Lee K; Gordon AS; Amendola LM; Adelman K; Bale SJ; Chung WK; Gollob MH; Harrison SM; Herman GE; Hershberger RE; Klein TE; McKelvey K; Richards CS; Vlangos CN; Stewart DR; Watson MS; Martin CL; Genet Med; 2021 Aug; 23(8):1391-1398. PubMed ID: 34012069 [No Abstract] [Full Text] [Related]
31. Secondary findings in 421 whole exome-sequenced Chinese children. Chen W; Li W; Ma Y; Zhang Y; Han B; Liu X; Zhao K; Zhang M; Mi J; Fu Y; Zhou Z Hum Genomics; 2018 Sep; 12(1):42. PubMed ID: 30217213 [TBL] [Abstract][Full Text] [Related]
32. The exome factor. Stower H Genome Biol; 2011 Sep; 12(9):407. PubMed ID: 21920053 [TBL] [Abstract][Full Text] [Related]
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40. A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants. Cakici JA; Dimmock DP; Caylor SA; Gaughran M; Clarke C; Triplett C; Clark MM; Kingsmore SF; Bloss CS Am J Hum Genet; 2020 Nov; 107(5):953-962. PubMed ID: 33157008 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]