Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families-Reference-Cited by-同舟云学术

Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families

Published:2022-01-12 Issue:2 Volume:36 Page:
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:Clinical Laboratory Analysis

Author:

Moudi Mahdiyeh¹²,Vahidi Mehrjardi Mohammad Yahya³,Hozhabri Hossein⁴,Metanat Zahra⁵,Kalantar Seyed Mehdi¹,Taheri Mohsen²⁵,Ghasemi Nasrin⁶,Dehghani Mohammadreza³^ORCID

Affiliation:

1. Department of Genetics Shahid Sadoughi University of Medical Sciences Yazd Iran

2. Genetics of Non‐Communicable Disease Research Center Zahedan University of Medical Sciences Zahedan Iran

3. Medical Genetics Research Center Shahid Sadoughi University of Medical Sciences Yazd Iran

4. Medical Bioinformatician Centogene Rostock Germany

5. Department of Genetics School of Medicine Zahedan University of Medical Sciences Zahedan Iran

6. Abortion Research Centre Yazd Reproductive Sciences InstituteShahid Sadoughi University of Medical Sciences Yazd Iran

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcla.24241

Reference28 articles.

1. Recent Advances in the Clinical Application of Next-Generation Sequencing

2. Expanding the genetic heterogeneity of intellectual disability

3. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

4. Next-Generation Sequencing Technologies and Neurogenetic Diseases

5. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

Cited by 5 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. Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review;Journal Français d'Ophtalmologie;2024-10

2. Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50;2024-08-29

3. Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50;2024-08-29

4. Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease;Molecular and Cellular Biology;2024-06-02

5. Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms;Frontiers in Neurology;2023-05-25