Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort-Reference-Cited by-同舟云学术

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Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohort

Published:2022-09-25 Issue:12 Volume:188 Page:3482-3491
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Nazeha Nuraini¹,Koh Ai Ling²³^ORCID,Kam Sylvia²³,Lim Jiin Ying²³,Goh Denise Li Meng⁴⁵,Jamuar Saumya Shekhar²³⁶^ORCID,Graves Nicholas¹

Affiliation:

1. Health Services and Systems Research Duke‐NUS Medical School Singapore Singapore

2. Genetics Service, Department of Paediatrics KK Women's and Children's Hospital Singapore Singapore

3. SingHealth Duke‐NUS Genomic Medicine Centre Singapore Singapore

4. Department of Paediatrics, Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore

5. Department of Paediatrics, Khoo Teck Puat ‐ National University Children's Medical Institute National University Hospital Singapore Singapore

6. SingHealth Duke‐NUS Institute of Precision Medicine Singapore Singapore

Funder

Agency for Science, Technology and Research

National Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62974

Reference37 articles.

1. Approach to patients with neuromuscular disorders;Amato A. A.;AANEM,2005

2. Evaluation of the child with global developmental delay and intellectual disability

3. Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

4. Being the Pillar for Children with Rare Diseases—A Systematic Review on Parental Quality of Life

5. Practice parameter for the diagnosis and management of primary immunodeficiency

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