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

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

2023European Journal of Medical Genetics17 citationsDOI

Topics & Concepts

ProbandExome sequencingExomeConcordanceGenetic testingMedicineGeneticsMutationBiologyInternal medicineGeneGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting | Litcius