Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting-Reference-Cited by-同舟云学术

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting

Published:2023-05 Issue:5 Volume:66 Page:104730
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Pranav Chand Rayabarapu,Vinit Wankhede,Vaidya Varsha,Iyer Anand Subramaniam,Shelke Madhavi,Aggarwal Shagun,Magar Suvarna,Danda Sumita,Moirangthem Amita,Phadke Shubha Rajendra,Goyal Manisha,Ranganath Prajnya,Mistri Mehul,Shah Parth,Shah Nidhi,Kotecha Udhaya Hardik

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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4. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center;Brunet;Clin. Genet.,2021

5. New candidates for autism/intellectual disability identified by whole-exome sequencing;Bruno;Int. J. Mol. Sci.,2021

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1. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent;The Journal of Molecular Diagnostics;2024-06

2. Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications;Clinical Genetics;2024-02-19

3. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India;European Journal of Human Genetics;2023-12-20

4. Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings;Frontiers in Genetics;2023-12-14

5. Next-Generation Sequencing in Unexplained Intellectual Disability;Indian Journal of Pediatrics;2023-10-07