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Journal of Genetic Counseling|December 1, 2025
Telegenetics in India: A 3-year review of 938 appointments and patient-clinician perspectivesShruti Bajaj, Tasneem Shaikh, Niharika Jadeja
Indian Journal of Ophthalmology|July 6, 2022
Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban settingShruti Bajaj, Mathangi Venkatraman, Nidhi Agarwal, et al.
BMC Pediatrics|March 7, 2021
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case reportShruti Bajaj, Fazal Nabi, Jhanvi Shah, et al.
Annals of Indian Academy of Neurology|March 13, 2023
Dopa-Responsive Dystonia: An Early Presentation of Ataxia-TelangiectasiaAnshita Arora, Shruti Bajaj, Nishant Rathod, et al.
BMC Pediatrics|February 4, 2022
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case reportShruti Bajaj, Purnima Satoskar, Aadhira Nair, et al.
JBJS Case Connector|February 24, 2021
Posterior Circulation Stroke due to Atlantoaxial Instability in CHST3-Related Skeletal Dysplasia: A Case ReportArjun Dhawale, Shruti Bajaj, Kshitij Chaudhary, et al.
American Journal of Medical Genetics. Part A|September 29, 2020
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndromePuneeth H Somashekar, Priyanka Upadhyai, Dhanya L Narayanan, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
American Journal of Medical Genetics. Part A|April 12, 2025
Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia SyndromeMangalore S Shravya, Greeshma Purushothama, Periyasamy Radhakrishnan, et al.
Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.
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