Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies-Reference-Cited by-同舟云学术

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies

Published:2024 Issue: Volume:39 Page:
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Yang Misun¹²^ORCID,Kim Jee Ah³⁴^ORCID,Heui Seung Jo⁵^ORCID,Park Jong-Ho⁶^ORCID,Ahn So Yoon¹²^ORCID,Sung Se In¹²^ORCID,Park Won Soon⁷^ORCID,Cho Hye-Won⁸^ORCID,Kim Jeong-Min⁸^ORCID,Park Mi-Hyun⁸^ORCID,Park Hyun-Young⁹^ORCID,Jang Ja-Hyun³^ORCID,Chang Yun Sil¹²¹⁰^ORCID

Affiliation:

1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2. Cell and Gene Therapy Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

3. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

4. Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

5. Department of Pediatrics, Kangwon National University Hospital, Kangwon National University School of Medicine, Chuncheon, Korea.

6. Clinical Genomics Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

7. Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.

8. Precision Medicine Center, Seoul National University Bundang Hospital, Seongnam, Korea.

9. National Institute of Health, Cheongju, Korea.

10. Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, Korea.

Funder

Korea Disease Control and Prevention Agency

Korea National Institute of Health

Publisher

XMLink

Link

https://jkms.org/pdf/10.3346/jkms.2024.39.e250

Reference48 articles.

1. Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study

2. Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries

3. Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

4. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

5. Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population