Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia-Reference-Cited by-同舟云学术

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia

Published:2019-09 Issue:6 Volume:96 Page:566-574
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Shakya Sunil¹,Kumari Renu²³,Suroliya Varun¹,Tyagi Nishu²,Joshi Aditi²,Garg Ajay⁴,Singh Inder¹,Kalikavil Puthanveedu Divya⁵,Cherian Ajith⁵,Mukerji Mitali²³,Srivastava Achal K.¹,Faruq Mohammed²³^ORCID

Affiliation:

1. Department of Neurology, Neuroscience CentreAll India Institute of Medical Sciences New Delhi India

2. Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative Biology (CSIR‐IGIB) Delhi India

3. CSIR‐Institute of Genomics and Integrative Biology (CSIR‐IGIB)Academy of Scientific and Innovative Research(AcSIR) New Delhi India

4. Neuroradiology Department, Neuroscience CentreAll India Institute of Medical Sciences New Delhi India

5. Department of NeurologySree Chitra Tirunal Institute of Medical Sciences and Technology Trivandrum India

Funder

Indian Council of Medical Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13625

Reference14 articles.

1. Systematic review of autosomal recessive ataxias and proposal for a classification;Beaudin M;Cerebellum Ataxias,2017

2. Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

3. Exome sequencing in undiagnosed inherited and sporadic ataxias

4. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

5. Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

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