Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review-Reference-Cited by-同舟云学术

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

Published:2018-05 Issue:3 Volume:41 Page:435-445
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Graham Emma,Lee Jessica,Price Magda,Tarailo-Graovac Maja,Matthews Allison,Engelke Udo,Tang Jeffrey,Kluijtmans Leo A. J.,Wevers Ron A.,Wasserman Wyeth W.,van Karnebeek Clara D. M.,Mostafavi Sara

Funder

Natural Sciences and Engineering Research Council of Canada

Michael Smith Foundation for Health Research (CA)

Canadian Institute for Advanced Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-018-0139-6/fulltext.html

Reference79 articles.

1. Abella L, Steindl K, Simmons L et al (2016) A combined metabolic-genetic approach to early-onset epileptic encephalopathies: results from a Swiss study cohort. Neuropediatrics. doi: 10.1055/s-0036-1583731

2. Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. https://doi.org/10.1002/0471142905.hg0720s76

3. Alonso-herranz JGV, Barbas C, Grace E (2015) Controlling the quality of metabolomics data : new strategies to get the best out of the QC sample. Metabolomics 518–528. doi: https://doi.org/10.1007/s11306-014-0712-4

4. Blau N, Gibson MK, Marinus D, Dionisi-Vici C (2014) IEMBASE, a knowledgebase of inborn errors of metabolism. Mol Genet Metab 111:296

5. Bajad SU, Lu W, Kimball EH et al (2006) Separation and quantitation of water soluble cellular metabolites by hydrophilic interaction chromatography-tandem mass spectrometry. J Chromatogr A 1125:76–88. https://doi.org/10.1016/j.chroma.2006.05.019

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