Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing-Reference-Cited by-同舟云学术

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Published:2019-07-29 Issue:12 Volume:27 Page:1821-1826
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Akesson Lauren S.,Eggers Stefanie,Love Clare J.,Chong Belinda,Krzesinski Emma I.,Brown Natasha J.,Tan Tiong Y.,Richmond Christopher M.,Thorburn David R.^ORCID,Christodoulou John^ORCID,Hunter Matthew F.,Lunke Sebastian^ORCID,Stark Zornitza

Funder

Department of Health | National Health and Medical Research Council

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0477-3.pdf

Reference30 articles.

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3. Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, et al. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. Genet Med. 2018;20:1468–71.

4. Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016;18:1090–6.

5. Stark Z, Schofield D, Martyn M, Rynehart L, Shrestha R, Alam K, et al. Does genomic sequencing early in the diagnostic trajectory make a difference? a follow-up study of clinical outcomes and cost-effectiveness. Genet Med. 2019;21:173–80.

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