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.Her expertise in Genetics and Metabolic disorders is highlighted by the fact that she has also written a chapter in the Textbook of Pediatrics on Inborn Errors of Metabolism.
We have provided the pdf format of few of the interesting cases she has had the opportunity to work upon.
For more information and appointment, please write to info@geneticsinindia.com
- 1. Bajaj S, Shah P, Sennappa V, Kalyankar J, Hingwala D. Exome sequencing reveals diagnosis of LAMA2-muscular dystrophy and possibility of co-existing Bethlem myopathy in a neonate. J Pediatr Neurol 2021 (accepted for publication).
- 2. 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.
- 3. 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;11:e.20.00393.
- 4. 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;1:302-4.
- 5. Sanghvi KP, Bajaj S, Mirani S. A mutation in SLC25A4 leads to Mitochondrial DNA-depletion syndrome-12A causing neonatal hypotonia and hypoventilation. J Pediatr Neurol 2021, DOI: 10.1055/s-0041-1722954
- 6. 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)
- 7. Bajaj S. An Ode to Duchenne Muscular Dystrophy (GeneVerse). Genetic Clinics 2021;14:23.
- 8. 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.
- 9. Bajaj S, Magar S, Sheth J. Lysosomal storage disorders: Underdiagnosed Metabolic Disorders. Indian Pract 2020;73:26-32.
- 10. 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. Clinical Genetics 2018;1-5.
- 11. 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)
- 12. 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
- 13. 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.
- 14. Bajaj S, Tullu MS, Agrawal M. Hemiconvulsion-hemiplegia syndrome. Neurology India 2016;64:1094-5.
- 15. 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.
- 16. 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.
- 17. 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.
- 18. 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.
- 19. Agarwal S, Divecha C, Tullu MS, Deshmukh CT. A rare case of nephrotic syndrome: ‘Nailed’ the diagnosis. J Postgrad Med 2014;60:179-82.
- 20. 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
- 21. Muranjan M, Agarwal S, Lahiri K, Bashyam M. Novel biochemical abnormalities and genotype in Farber disease. Indian Pediatr 2012;49,320-22.
- 22. Muranjan M, Agarwal S. Inborn errors of metabolism - prenatal diagnosis & newborn screening: relevance in India. Indian Journal of Practical Pediatrics 2010;12:131-137
- Shruti Bajaj. In: Textbook of Pediatrics. Editor Agrawal M. CBS Publishers, 2017
- 1. Agarwal S, Muranjan M, Lahiri K, Warang C. Lysosomal Storage disorders: A diagnostic Odyssey—First prize for Best Oral Presentation at Mahapedicon 2008, 19th Annual Conference of IAP Maharashtra State.
- 2. Agarwal S, Muranjan M, Lahiri K. Enzyme Replacement Therapy with Cerezyme: Lease of life in Gaucher disease. Nominated for Best Oral Paper at Mahapedicon 2009, Pune, Annual Conference of Indian Academy Of Pediatrics Maharashtra State Chapter.
- 3. Agarwal S, Muranjan M, Lahiri K, Warang C. Lysosomal Storage disorders: A diagnostic Odyssey—Nominated for Best Oral Paper presented for " Dr. Amrit Modi GSMC Award Paper session" at the Scientific meeting of Staff Society January 2009
- 4. Agarwal S, Nanavati R, Sureka S. KAP study of the KMC practices in a tertiary care centre: Does Knowledge really affect the Attitude and Practice?—First Prize for the Best Oral Paper-“Social Neonatology” at the 32nd Annual Convention of National Neonatology Forum of India, New Delhi, 2012
- 5. Agarwal S, Muranjan M, Lahiri K, Kher A. Mystery of the undiagnosed nodules. Genetics to the rescue. First Prize for Poster Presentation at Mahapedicon 2009, Pune, Annual Conference of Indian Academy Of Pediatrics Maharashtra State Chapter
- 6. Muranjan M, Agarwal S, Lahiri K. Lysosomal Storage Disorders in Mumbai- a diagnostic odyssey. International Poster Presentation in the 13th Annual Asia LSD Symposium, Taiwan Human Genetics Society 2010
- 7. Agarwal S, Nanavati R, Sureka S. KAP study of the KMC practices in a tertiary care centre: Does Knowledge really affect the Attitude and Practice?—International Poster presentation at the 9th International Conference on Kangaroo Mother Care, Ahmedabad, 2012
- 8. Agarwal S, Muranjan M, Lahiri K. ‘Notch’ in the array of clinical presentation of Down syndrome. Nominated for the Best Poster at the Annual Conference of IAP Mumbai and IAP Navi Mumbai Splendid Embicon (2010)
- 9. Agarwal S, Muranjan M, Lahiri K. Gaucher Disease- Beyond the Usual!- Nominated for the Best Poster at the Annual Conference of IAP Mumbai and IAP Navi Mumbai Splendid Embicon (2010)
- 10. Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in India: a need for early diagnosis. Poster presentation at the International conference on ‘Inborn Errors of Metabolism & 3rd National conference of ISIEM’, Hyderabad (2014)
- 11. Deshmukh N, Muranjan M, Agarwal S, Karande S. Case series on unusual presentations of Gaucher disease. Poster presentation at the International conference on ‘Inborn Errors of Metabolism & 3rd National conference of ISIEM’, Hyderabad (2014)
- 12. Kadiyani L, Muranjan M, Bajaj S, Karande S, Sankhe S. Images: Not below 18 years. A case ofAdrenoleukodystrophy with rare MRI findings and a novel mutation. Poster presentation at the second National Annual Genetic Conference, Pedigen, Pune (2015)
- 13. Bajaj S, Muranjan M, Karande S, Singhal P, Prabhat D. Pulmonary presentation of Niemann-Pick disease Type C: nailing a rare etiology. Poster presentation at Respicon, Mumbai (2015)
- 14. Tyagi P, Bajaj S, Dave A, Tullu M, Agrawal M. Two cases of cystic fibrosis: clinical heterogeneity re-emphasized! Poster Presentation at Respicon, Mumbai (2015)
- 15. Jagtap V, Tyagi P, Tullu M, Agrawal M, Bajaj S. CMV retinitis in a child with HIV wasting syndrome. Poster presentation at ASICON, Mumbai (2015)
- 16. Shah A, Bajaj S, Muranjan M, Tamhankar P. Scaling the diagnosis: a case of syndromic Mendelian disorder of cornification. First prize- Oral Presentation at IAMGCON, Jodhpur (2015)
- 17. Patil S, Bajaj S, Muranjan M. Clinical profile of infantile Pompe disease at a single centre. 2nd prize in poster presentation at Child Neurocon, Lucknow (2016)
- 18. Asangi S, Bajaj S, Kulkarni A, Tullu M, Agrawal M. Child positive, mother negative: a clinical dilemma. Poster presentation at 9th National Conference of AIDS Society of India, Mumbai (2016)
- 19. Karia P, Bajaj S, Arora M, Kundana K, Tullu M, Agrawal M. Three cases of HIV infection in infants detected by clinically directed selective screening. Poster presentation at 9th National Conference of AIDS Society of India, Mumbai (2016)
- 20. Khan Z, Bajaj S, Tullu M, Agrawal M. When potion becomes poison: a case of flecainide poisoning. Poster presentation at the 18th Annual Conference of IAP Intensive care chapter. National conference of pediatric critical care (2016)
- 21. 4th Prize. Mondkar S, Muranjan M, Bajaj S. The unexplored story of treatment naïve Gaucher disease in India. Poster presentation at the International South-Asia Lysosomal storage disorders Symposium, New Delhi. (2016)
- 22. Bajaj S, Muranjan M. A case of connective tissue disorder with neuromuscular features: next generation sequencing aiding the diagnosis. Poster presentation, 1st Prize at International CME- Integration of Genomics in Clinical Practice, Mumbai (2016)
- 23. Kundana K, Kulkarni A, Bajaj S, Muranjan M, Hegde A. Unfolding the mystery of infantile spasms: next generation sequencing to the rescue. Poster pre
- sentation, 1st Prize at International CME- Integration of Genomics in Clinical Practice, Mumbai (2016)
- 24. Chowdhary S, Garg P, Bajaj S, Muranjan M. Retrospective analysis of the burden of genetic diseases in a tertiary care centre in Mumbai. Poster presentation, 2nd Prize at International CME- Integration of Genomics in Clinical Practice, Mumbai (2016)
- 25. Hebbar M, Galada C, Kanthi A, Kadavigere R, Shrikiran A, Lewis L, Nampoothiri S, Bhat V, Muranjan M, Bajaj S, Bielas S, Katta GM, Shukla A. Clinical and molecular insights into developmental abnormalities of corpus callosum. Poster presentation at the 67th Annual meeting of the American Society of Human Genetics, Orlando 2017.
- 26. Somashekhar P, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Lakshmi D, Kaur A, Bajaj S, Jagadeesh S, Katta GM, Shukla A. Novel phenotypic and molecular insights in families with Waardenburg syndrome. Poster presentation at the National Medical Genetics Update V on Genomics of Neurodevelopmental disorders, Manipal (2018)
- 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. Good Clinical Practices training (NIDA clinical trials network) in June 2015
- 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 40 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
- 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