Newborn testing and screening by whole-genome sequencing (Q46059896)

19 December 2017

title

Newborn testing and screening by whole-genome sequencing (English)

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19 December 2017

main subject

whole genome sequencing

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Stephen F Kingsmore

1

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language of work or name

English

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publication date

17 December 2015

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19 December 2017

published in

Genetics in Medicine

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19 December 2017

volume

18

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19 December 2017

issue

3

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19 December 2017

page(s)

214-216

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19 December 2017

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

cites work

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.172

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Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

21 January 2018

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.172

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.172

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21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.172

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

21 January 2018

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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

21 January 2018

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Effects of genetic risk information on children's psychosocial wellbeing: a systematic review of the literature

21 January 2018

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

21 January 2018

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12 December 2020

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

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12 December 2020

Parents' experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

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12 December 2020

Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.

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12 December 2020

Identifiers

DOI

10.1038/GIM.2015.172

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19 December 2017

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19 December 2017