Sheffali Gulati

All India Institute of Medical Sciences — India

Biochemistry, Genetics and Molecular Biology · Life Sciences

7h-index105citations42works0.52yr avg
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Research Topics

Muscle Physiology and Disorders(5), Epilepsy research and treatment(3), Cardiomyopathy and Myosin Studies(3), Lysosomal Storage Disorders Research(3), Infant Development and Preterm Care(3)

Publications42 total

A comprehensive framework for the interpretation of TTN missense variants
Genome Medicine·2026Open Access
Pulmonary Dysfunction in Children with Dystrophinopathy: A Cross-Sectional Study – Authors’ Reply
The Indian Journal of Pediatrics·2026Open Access
Comprehensive neurodevelopmental assessment through non-specialists: Validation of the STREAM digital platform in India and Malawi
2025Open Access
Intrathecal onasemnogene abeparvovec (OAV101 IT) for patients with spinal muscular atrophy (SMA): Phase 3, randomized, sham-controlled, double-blind steer study
Journal of the Neurological Sciences·2025
Design, Development, and Implementation of India’s National Registry for Rare and Other Inherited Disorders
2025Open Access
Evaluation, Diagnosis, and Treatment of Sydenham Chorea: Consensus Guidelines
PEDIATRICS·2025· 1 citedOpen Access
Unravelling the Inflammatory and Metabolic Insights in Subacute Sclerosing Panencephalitis: A Prospective Multimodal Evaluation
Pediatric Neurology·2025
Mitigating Feeding Disorders and Malnutrition in Children with Developmental Disabilities: A Narrative Review
Indian Pediatrics·2025
Efficacy and safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis
Seizure·2025
Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial
Journal of Comparative Effectiveness Research·2025Open Access
Consensus Guidelines of the Indian Academy of Pediatrics (IAP)—Neurodevelopmental Pediatrics Chapter on Developmentally Supportive Follow-Up for High-Risk Infants
Indian Pediatrics·2025· 1 cited
MCQs on Epilepsy
International Journal of Epilepsy·2025Open Access
Uncommon Pediatric Immune-Mediated Epilepsy: Disease Course, Diagnosis, and Outcome – A Series of Three Cases
Annals of Indian Academy of Neurology·2024Open Access
Scalable Transdiagnostic Early Assessment of Mental Health (STREAM): a study protocol
BMJ Open·2024· 4 citedOpen Access
Scalable Transdiagnostic Early Assessment of Mental health (STREAM): Study Protocol
2024Open Access
Ataluren Delays Clinically Meaningful Milestones of Decline in 6WMD in Patients with nmDMD from Study 041, a Phase 3, Placebo-controlled Trial (S21.001)
Neurology·2024
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality
Mitochondrion·2024· 2 cited
Bartter Syndrome Unveiled: Unraveling the Masquerade of Neuroregression
The Indian Journal of Pediatrics·2023Open Access
Safety and Efficacy of Ataluren in nmDMD Patients from Study 041, a Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial (PL5.001)
Neurology·2023· 6 cited
Tolvaptan for Treatment of Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) in a Child with Corpus Callosum Agenesis
The Indian Journal of Pediatrics·2023· 3 cited
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Frequent Co-authors

Biswaroop Chakrabarty(13), Prashant Jauhari(10), Madhulika Kabra(6), Neerja Gupta(4), Veena Kalra(3), Shiwen Wu(3), Hirofumi Komaki(3), Jeffrey Statland(3), Vinay Penematsa(3), Connie Chou(3), Christian Werner(3), Elin H Williams(3), Nicholas M. Thompson(3), Gareth McCray(3), Maria M. Crespo-Llado(3), Supriya Bhavnani(3), Diksha Gajria(3), Debarati Mukherjee(3), Teresa Del Bianco(3), Georgia Lockwood Estrin(3)