Aparna Ganapathy
Bengaluru, KA, India
Last Updated: 09/26/2026
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Found 17 publications
Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders.
Journal: Indian journal of psychological medicine
Published: September 26, 2022
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Journal: Neurology India
Published: January 04, 2022
Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 01, 2021
Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing.
Journal: Clinical chemistry
Published: December 28, 2020
Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
Journal: American journal of medical genetics. Part A
Published: September 03, 2020
Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.
Journal: The Indian journal of medical research
Published: November 14, 2019
Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.
Journal: Ophthalmic genetics
Published: September 17, 2019
Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.
Journal: Journal of clinical immunology
Published: January 10, 2019
1q42.12q42.2 Deletion in a Child with Midline Defects and Hypoplasia of the Corpus Callosum.
Journal: Molecular syndromology
Published: November 27, 2018
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.
Journal: The Indian journal of medical research
Published: July 13, 2018
Last Updated: 09/26/2026