Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis-Reference-Cited by-同舟云学术

Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis

Published:2022-05 Issue:5 Volume:24 Page:1027-1036
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Jegathisawaran Jathishinie,Tsiplova Kate,Hayeems Robin Z.,Marshall Christian R.,Stavropoulos Dimitri J.,Pereira Sergio L.,Thiruvahindrapuram Bhooma,Liston Eriskay,Reuter Miriam S.,Manshaei Roozbeh,Cohn Iris,Jobling Rebekah,Kim Raymond H.,Mital Seema,Ungar Wendy J.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference25 articles.

1. Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability;Zahir;BMC Genomics,2017

2. Genome-wide characteristics of de novo mutations in autism;Yuen;NPJ Genom Med,2016

3. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG);Miller;Genet Med,2021

4. 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;Genet Med,2021

5. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study;Cohn;NPJ Genom Med,2017

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