Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities-Reference-Cited by-同舟云学术

Next-generation sequencing for the diagnosis of patients with congenital multiple anomalies and / or intellectual disabilities

Published:2020 Issue:3.4 Volume:67 Page:246-249
ISSN:1343-1420
Container-title:The Journal of Medical Investigation
language:en
Short-container-title:J. Med. Invest.

Author:

Suga Kenichi¹,Imoto Issei²³⁴,Ito Hiromichi¹⁵,Naruto Takuya²,Goji Aya¹,Osumi Keita¹,Tokaji Narumi¹,Homma Yukako¹,Ono Akemi¹,Ichihara Yuko¹,Shono Miki¹,Mori Tatsuo¹,Urushihara Maki¹,Nakagawa Ryuji¹,Hayabuchi Yasunobu,Kagami Shoji¹

Affiliation:

1. Department of Pediatrics, Tokushima University Hospital, Tokushima, Japan

2. Department of Human Genetics, Graduate school of Biomedical Science, Tokushima University Graduate School, Tokushima, Japan

3. Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan

4. Department of Cancer Genetics, Nagoya University Graduate School of Medicine, Nagoya, Japan

5. Department of Special Needs Education, Graduate School of Education, Naruto University of Education, Naruto, Japan

Publisher

University of Tokushima Faculty of Medicine

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.jstage.jst.go.jp/article/jmi/67/3.4/67_246/_pdf

Reference12 articles.

1. Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

2. The clinical utility of next-generation sequencing in the neonatal intensive care unit

3. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

4. Developments in our understanding of the genetic basis of birth defects

5. Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders;Annals of Pediatric Endocrinology & Metabolism;2024-06-30

2. Utilidad diagnóstica de la secuenciación de segunda y tercera generación en pacientes con discapacidad intelectual: revisión rápida;Psiquiatría Biológica;2023-01