Dr Bajaj is an avid academician along with being an astute clinician. Her tilt for evidence based medicine and interest in disseminating what she has learnt, is evident from the list of her publications.
For more information and appointment, please write to info@geneticsinindia.com For Direct Chat +91 9136017545
- Bajaj S, Shah P, Shah A, Setty PN, Seenappa V, Hingwala D. An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene. Annals of Indian Academy of Neurology 2022; xx: xx-xx (accepted for publication)
- Bajaj S, Thawani S, Iyer G, Setty PN, Kore M, Jadhav V. Telegenetics aids the diagnosis of Hunter syndrome caused due to novel IDS variant in rural India, during COVID19 pandemic. Int J Contemp Pediatr 2022;9:xx-xx (accepted for publication)
- Bajaj S, Shah P, Shah A, Setty PN, Seenappa V, Hingwala D. An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene. Annals of Indian Academy of Neurology 2022; xx: xx-xx (accepted for publication)
- Bajaj S, Thawani S, Iyer G, Setty PN, Kore M, Jadhav V. Telegenetics aids the diagnosis of Hunter syndrome caused due to novel IDS variant in rural India, during COVID19 pandemic. Int J Contemp Pediatr 2022;9:xx-xx (accepted for publication)
- Bajaj S, Vatkar A, Barot V, Barot S. Rare case of biotin-thiamine-responsive basal ganglia disease presenting in a neonate. Journal of Child Sciences. 2022;xx:xx-xxx (accepted for publication)
- Bajaj S, Venkatraman M, Agarwal N, Kothari. Cross sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting. Indian Journal of Ophthalmology. DOI 10.4103/ijo.IJO_2187_21 (accepted for publication)
- Bajaj S, Satoskar P, Nair A, Sheth F, Sheth J, Sheth H. 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 report. BMC Pediatrics 2022;22:78.
- Bajaj S, Gadgil P, Seenappa V, Setty PN, Joshi V, Shah S. Exome sequencing reveals a novel de novo TBL1XR1 variant causing Pierpont syndrome in an Indian child: a case report and genotype-phenotype review of reported patients. Journal of Pediatric Neurology (accepted for publication)
- Kaur P, do Rosario MC, Hebbar M, Sharma S, Kausthubham N, Nair K, A S, Bhat Y R, Lewis LES, Nampoothiri S, Patil SJ, Suresh N, Bijarnia Mahay S, Dua Puri R, Pai S, Kaur A, Kc R, Kamath N, Bajaj S, et al. Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Clin Genet 2021;100:542-50.
- Bajaj S, Joglekar U, Jalan A, Häberle J, Rüfenacht V. Preserved blood spots aid antenatal diagnosis of Citrullinemia type-1. Journal of fetal medicine 2021;xx:xx-xx. (accepted for publication)
- Bajaj S, Shah P, Seenappa V, Kalyankar J, Hingwala D. Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and Possibility of Coexisting Bethlem Myopathy in a Neonate. Journal of Pediatric Neurology. DOI: 10.1055/s-0041-1731025
- Bajaj S, Nabi F, Shah J, Sheth H. Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report. BMC Pediatr 2021:6;21:113.
- Dhawale A, Bajaj S, Choudhary K, Agarwal T, Garg S, Chaudhary H. Posterior circulation stroke due to atlantoaxial instability in CHST3-related skeletal dysplasia. JBJS Case Connector 2021, 2021;11:e.20.00393.
- Bajaj S, Koradia D, Kothari M. Prenatal diagnosis for isolated aniridia: A case report and simplified diagnostic approach for ophthalmologists. Indian Journal of Ophthalmology Case reports 2021; 2021;1:302-4.
- Sanghvi KP, Bajaj S, Mirani S. A mutation in SLC25A4 leads to Mitochondrial DNA-depletion syndrome-12A causing neonatal hypotonia and hypoventilation. Journal of Pediatric Neurology 2021, DOI: 10.1055/s-0041-1722954
- Bajaj S, Patil P, Khubchandani R. Enthesitis related arthritis in a child with Turner syndrome. Indian Journal of Rheumatology 2020;XX,x-x. (accepted for publication)
- Bajaj S. An Ode to Duchenne Muscular Dystrophy (GeneVerse). Genetic Clinics 2021;14:23.
- Somashekar P, Upadhyai P, Narayan DL, Kamath N, Bajaj S, Katta GM, Shukla A. Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome. American Journal of Medical Genetics (Part A) 2020;182:2951-8.
- Bajaj S, Magar S, Sheth J. Lysosomal storage disorders: Underdiagnosed Metabolic Disorders. Indian Pract 2020;73:26-32.
- Somashekhar P, Katta GM Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Lakshmi D, Kaur A, Bajaj S, Jagadeesh S, Lewis L, Shailaja S, Shukla A. Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clin Genet 2018;1-5.
- Bajaj S, Tullu M, Khan ZAH, Agrawal M. When potion becomes poison! A case report of flecainide toxicity. J Postgrad Med (DOI: 10.4103/0022-3859.201422)
- Thombare T, Bajaj S, Tullu MS, Agrawal M. Being right, but in the wrong place. Indian Journal of Trauma and Emergency Pediatrics. 2018; 10: 87- 91
- Bajaj S, Muranjan M, Karande S, Prabhat D. Rare disease heralded by pulmonary manifestations: avoiding pitfalls of an ‘asthma’ label. J Postgrad Med 2017;63:122-7.
- Bajaj S, Tullu MS, Agrawal M. Hemiconvulsion-hemiplegia syndrome. Neurology India 2016;64:1094-5.
- Bajaj S, Thombare T, Tullu MS, Agrawal M. “FISH”ed out the diagnosis: a case of DiGeorge syndrome. J Postgrad Med 2016;62:118-23.
- Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in India: a need for early diagnosis. Indian J Pediatr 2015;82:525-29.
- Divecha C, Agarwal S, Tullu M, Deshmukh CT, Agrawal M, Shaikh S. Acute respiratory distress syndrome due to mecury inhalation: a case report. J Pediatr Intensive Care 2015;4:168-70.
- Bajaj S, Nanavati RN, Sureka S, Ranjan S, Kabra N. KAP study of the KMC practices in a tertiary care centre: Does Knowledge really affect the Attitude and Practice? Perinatology 2015;2:62-8.
- Agarwal S, Divecha C, Tullu MS, Deshmukh CT. A rare case of nephrotic syndrome: ‘Nailed’ the diagnosis. J Postgrad Med 2014;60:179-82.
- Karande S, Agarwal S, Gandhi B, Muranjan M. Chediak- Higashi syndrome in accelerated phase masquerading as severe acute malnutrition. BMJ Case Rep doi:10.1136/bcr-2014-203763
- Muranjan M, Agarwal S, Lahiri K, Bashyam M. Novel biochemical abnormalities and genotype in Farber disease. Indian Pediatr 2012;49,320-22.
- Muranjan M, Agarwal S. Inborn errors of metabolism - prenatal diagnosis & newborn screening: relevance in India. Indian Journal of Practical Pediatrics 2010;12:131-7.
- Inborn errors of metabolism. Bajaj S. In: Textbook of Pediatrics. Editor Agrawal M. CBS Publishers, 2017
- Approach to neonatal encephalopathy. Nanavati R, Bajaj S. Editor Prabhu S, Elsevier Publishers, India Point of Care, 2020 (accepted for publication)
- Connective Tissue Disorders. Bajaj S. Handbook of FAQs on Basic Genetics and common genetic disorders. Editor Uppal K. CBS Publishers, 2021
- Neurocutaneous disorders. Bajaj S. Handbook of FAQs on Basic Genetics and common genetic disorders. Editor Uppal K. CBS Publishers, 2021
- Respiratory Disorders. Bajaj S. Handbook of FAQs on Basic Genetics and common genetic disorders. Editor Uppal K. CBS Publishers, 2021
- Skeletal Disorders. Bajaj S. Handbook of FAQs on Basic Genetics and common genetic disorders. Editor Uppal K. CBS Publishers, 2021
- 1. Research Coordinator for the trial ‘An Open Prospective Single Centre study to assess the confidence, usability, preference, and satisfaction on use of baby mask with valve from parents of children who are healthy and who have mild asthma’ Sponsor- Cipla Ltd. (2009)
- 2. Dissertation (2008-2011) Study of diagnostics and therapeutics in lysosomal storage disorders at a tertiary care centre
- 3. One year research project for MUHS accredited Fellowship in Clinical Genetics (2016)
Topic: A cross sectional study of the levels of anxiety in parents of children on their first visit to the Genetic Clinic of a tertiary hospital in Mumbai
- 4. Co-investigator Prospective study to analyse the yield and impact of genetics in autism. SRCC Children’s Hospital, managed by Narayana Hrudhyalaya, Mumbai. (2022-2023)
- Role of genetics in pediatric cardiac disorders
- How to choose a genetic test wisely
- Epidemiology of Gaucher disease in India
- Faculty Lectures delivered:
- Dr Bajaj has delivered more than > 150 talks (and counting), on various platforms; ranging from group academic meetings and CMEs addressing consulting paediatricians, gynaecologists, ophthalmologists; to trainee paediatricians, physiotherapists, occupational therapists, undergraduate students and nurses. Few of the topics she has shared her insights on, are as follows:
- When to suspect genetic disorders in pediatric practice?
- Practical Genetics for the practicing Obstetrician
- Inborn errors of metabolism: do it right the first time!
- How to talk genetics simplistically: Genetic counseling
- Treatable lysosomal storage disorders: we cannot miss them
- When is a floppy baby having a genetic condition?
- How to approach a case of developmental delay: a geneticist’s perspective
- Practical genetics for the Ophthalmologist
- Genetic mimics of cerebral palsy
- Practical genetics for the Pediatric Dermatologist
- Practical genetics for the Fetal Medicine Expert
- Practical genetics for the Pediatric Orthopedician
- Practical genetics for the Cardiologist
- Practical genetics for the Hemotologist
- Practical genetics for the Physiotherapist
Genetic
- Bajaj S BTBGD JCS
- Bajaj s CONDSIAS AIAN
- Bajaj et al Preserved blood spots antenatal diagnosis urea cycle
- Bajaj et al telegenetics
- Bajaj ISDNA skeletal dysplasia
- Bajaj LAMA and Ullrich_double hit neurogenetics
- Bajaj Ophthal genetics_delayed suspiciona
- Bajaj Pierpont syndrome_autism genetics
- Bajaj Aniridia Prenatal
- Bajaj et al Raine BMC Pediatrics
- CHST3 related skeletal dysplasia
- Duchenne muscular dystrophy Genetic clinics_poem
- lysosomal storage ds review bajaj et al
- Mitochondrial DNA depletion syndrome 12A
- Turner syndrome with rheumat manifestations
- Waardenburg paper 2 american journal of medical genetics A 2020
- Waardenburg syndrome Clinical Genetics
- Chediak Higashi syndrome
- DiGeorge Syndrome
- Farber disease
- Lysosomal Storage Disorders India
- Nail Patella Syndrome
- Niemann pick disease
- Autism genetics indian study 101 patients
- Burden of rare diseases 22yrs india
- Lysosomal storage disorders in adults JIMD