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अखिल भारतीय आयुर्विज्ञान संस्थान, नई दिल्ली
All India Institute Of Medical Sciences, New Delhi


Professor Madhulika Kabra
Professor, Division of Genetics, Department of Pediatrics

WHO Collaborating Center for Clinical & Laboratory Genetics in Developing Countries

Working in the specialty of  Medical Genetics for the last  25 years. Areas of interest  intellectual disability, dysmorphology, storage disorders & newborn screening   

Division of Genetics  Department of Pediatrics,
All India Institute of Medical Sciences

New Delhi


Dr Neerja Gupta, India

Assistant Professor

Division of Genetics

Department of Pediatrics

All India Institute of Medical Sciences, New Delhi

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Dr Neerja Gupta is currently working as Assistant Professor in the Division of Genetics at AIIMS, New Delhi. She obtained her medical degree at Banaras Hindu University and completed her Doctorate of Medicine (Medical genetics) at Sanjay Gandhi post graduate Institute, Lucknow, India. She is the Executive council member of Indian society of Inborn Errors of Metabolism, and Founder member of Indian Academy of Medical Genetics. She was a past Treasurer, Genetics chapter of Indian Academy of Pediatrics.She is a recipient of Clinical Genetics Society fellowship UK, 2012. Her area of interests includes dysmorphology, inherited metabolic disorders, intellectual disability and skeletal dysplasias. She is a coordinator for thequality assurance of birth defect surveillance across South East Asia region. She has several publications in peer reviewed indexed national and international journals.



Publications by the Division in the last 5 years




1.      Kumar A, Jaryal A, Gulati S, Chakrabarty B, Singh A, Deepak KK et al. Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome. Pediatr Neurol. 2017 May;70:61-66.


2.      Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A,  et al. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. J Dermatol Sci. 2017 Apr;86(1):30-36..


3.      Chowdhury MR, Chauhan S, Dabral A, Thelma BK, Gupta N, Kabra M. Validation of  Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients. J Child Neurol. 2017 Mar;32(4):371-378.


4.      Shruthi M, Gupta N, Jana M, Mridha AR, Kumar A, Agarwal R, Sharma R, Deka D, Gupta AK, Kabra M. Comparative study of conventional and virtual autopsy using postmortem MRI in the phenotypic characterization of stillbirths and malformed fetuses. Ultrasound Obstet Gynecol. 2017 Mar 13.


5.      Harivenkatesh N, Kumar L, Bakhshi S, Sharma A, Kabra M, Velpandian T, Gogia A, Shastri SS, Biswas NR, Gupta YK. Influence of MDR1 and CYP3A5 genetic polymorphisms on trough levels and therapeutic response of imatinib in newly diagnosed patients with chronic myeloid leukemia. Pharmacol Res. 2017 Mar 19;120:138-145.


6.      Kant S, Malhotra S, Singh AK, Haldar P, Kaur R, Misra P, Gupta N. Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based survey. Birth Defects Res. 2017 Feb 15;109(3):203-210.


7.      Midha S, Sreenivas V, Kabra M, Chattopadhyay TK, Joshi YK, Garg PK. Genetically Determined Chronic Pancreatitis but not Alcoholic Pancreatitis Is a Strong Risk Factor for Pancreatic Cancer. Pancreas. 2016 Nov;45(10):1478-1484.


8.      Agarwal N, Singh PK, Gupta K, Gupta N, Kabra M. Identification of GJB6 gene mutation in an Indian man with Clouston syndrome. Indian J Dermatol Venereol Leprol. 2016 Nov-Dec;82(6):697-700.



9.      Puri RD, Kabra M. Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges! Indian J Pediatr. 2016 Oct;83(10):1131-2.


10.  Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC et al  Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Am J Med Genet A. 2016 Oct;170(10):2719-30.


11.  Nair N, Satapathy AK, Gupta N, Kabra M, Gupta AK, Jana M. Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type. Indian J Pediatr. 2016 Oct;83(10):1191-4.


12.  Sudarshan S, Gupta N, Kabra M. Genetic Studies in Autism. Indian J Pediatr. 2016 Oct;83(10):1133-40. doi: 10.1007/s12098-015-1989-7.


13.  Dar L, Namdeo D, Kumar P, Thakar A, Kant S, Rai S, etal . Congenital Cytomegalovirus Infection and Permanent Hearing Lossin Rural North Indian Children. Pediatr Infect Dis J. 2016 Dec 28.


14.  Das Bhowmik A, Gupta N, Dalal A, Kabra M. Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obes Res Clin Pract. 2016 Sep 21. 


15.  Sharma P, Gupta N, Chowdhury MR, Sapra S, Ghosh M, Gulati S, Kabra M. Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India. Gene. 2016 Sep 15;590(1):109-19.


16.  Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, et al . Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat. 2016 Nov;37(11):1157-1161.


17.  Satapathy AK, Pai G, Shruthi M, Kumar A, Jana M, Gupta N, Kabra M. Caffey's Disease: Two Cases Presenting with Unexplained Fever. Indian J Pediatr. 2016Nov;83(12-13):1499-1500.


18.  Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P,  et al. Smith-Magenis Syndrome: Face Speaks. Indian J Pediatr. 2016 Jun;83(6):589-93.


19.  Sehgal R, Gulati S, Sapra S, Tripathi M, Pandey RM, Kabra M. Prognostic Utility of Clinical Epilepsy Severity Score Versus Pretreatment Hypsarrhythmia Scoring in Children With West Syndrome. Clin EEG Neurosci. 2016 Aug 31.


20.  Chaudhary N, Kabra M, Gulati S, Gupta YK, Pandey RM, Bhatia BD. Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy. BMC Pediatr. 2016 May 14;16:66.


21.  Gulati S, Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M. The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India. Ann Indian Acad Neurol. 2016 Jul-Sep;19(3):332-8


22.  Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82.


23.  Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M, Phadke SR. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Clin Dysmorphol. 2016 Jul;25(3):113-20.


24.  Jeevan A, Doyard M, Kabra M, Daire VC, Gupta N. Ghosal Type Hematodiaphyseal Dysplasia. Indian Pediatr. 2016 Apr;53(4):347-8.








B. Year 2015-16

1.      Teotia P, Mohanty S, Kabra M, Gulati S, Airan B. Enhanced ReprogrammingEfficiency and Kinetics of Induced Pluripotent Stem Cells Derived from HumanDuchenne Muscular Dystrophy. PLoSCurr. 2015 Sep 3;7.


2.      Sharma G, Lodha R, Shastri S, Saini S, Kapil A, Singla M, et al.. Zinc Supplementation for One Year Among Children with Cystic Fibrosis Does Not Decrease Pulmonary Infection. Respir Care. 2016Jan;61(1):78-84.


3.      Hughes DA, Gonzalez DE, Lukina EA, Mehta A, Kabra M, Elstein D, et al .Velaglucerasealfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease:Long-term data from phase III clinical trials. Am J Hematol. 2015Jul;90(7):584-91.


4.      Gupta S, Goyal M, Verma D, Sharma A, Bharadwaj N, Kabra M, et al. Adversepregnancy outcome in patients with low pregnancy-associated plasma protein-A: TheIndian Experience. J ObstetGynaecol Res. 2015 Jul;41(7):1003-8.


5.      5.Saini I, Dawman L, Gupta N, Kabra SK. Biologicals in Juvenile Idiopathic Arthritis. Indian Pediatr. 2016 Mar 8;53(3):260-1.


6.      Sahi PK, Shastri S, Lodha R, Gupta N, Pandey RM, Kabra SK, Kabra M. ADRB2 Polymorphism and Salbutamol Responsiveness in Northern Indian Children with Mild to Moderate Exacerbation of Asthma. Indian Pediatr. 2016 Mar 8;53(3):211-5.


7.      Sudarshan S, Gupta N, Kabra M. Genetic Studies in Autism. Indian J Pediatr.2016 Mar 3.


8.      Kabra M, Gupta N. Galactosemia , A Not to be Missed Inborn Error ofMetabolism. Indian Pediatr. 2016 Jan 8;53(1):19-20.


9.       Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, et al.  Smith-Magenis Syndrome: Face Speaks. Indian J Pediatr. 2015 Dec 17.


10.  Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, et al. Clinical and mutation profile of multicentricosteolysisnodulosis and arthropathy. Am J Med Genet A. 2016 Feb;170(2):410-7.



11.  Gupta N, Gothwal S, Satpathy AK, Missaglia S, Tavian D, Das P, et al. ChanarinDorfman syndrome: a case report with novel nonsense mutation. Gene.2016 Jan 10;575(2 Pt 1):359-62.


12.  Sharma P, Gupta N, Chowdhury MR, Phadke SR, Sapra S, Halder A, et al. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India. Cytogenet Genome Res.2015;146(3):187-94.


13.  Sahi PK, Gupta N. Pharmacogenetics of Asthma. Indian J Pediatr. 2015 Sep;82(9):773-4.


14.  Gupta N, Singh PK, Kumar M, Shastri S, Gulati S, Kumar A, et al. Erratum to: GlutaricAcidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. JIMD Rep. 2015;21:129. doi: 10.1007/8904_2015_448.


15.  Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, et al . Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet A. 2015 Oct;167A(10):2481-4.


16.  Akoury E, Gupta N, Bagga R, Brown S, Déry C, Kabra M, et al . Live births in women with recurrent hydatidiform mole and two NLRP7 mutations. Reprod Biomed Online. 2015 Jul;31(1):120-4.


17.  Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, et al .Recurrent and novel GLB1 mutations in India. Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078.



C. Year 2014-2015


1.      Gupta N, Singh PK, Kumar M, Shastri S, Gulati S, Kumar A, et al. Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. JIMD Rep. 2015.


2.      Jain P, Shastri S, Gulati S, Kaleekal T, Kabra M, Gupta N, et al. Prevalence of UGT1A6 polymorphisms in children with epilepsy on valproate monotherapy. Neurol India. 201563(1): 35-9.


3.      Gupta N, Jain P, Kabra M, Gulati S, Sethuraman G. Acrodermatitis Dysmetabolica -  eport of Two Cases. Indian J Pediatr. 2015 Feb


4.      Bijarnia-Mahay S, Movva S, Gupta N, Sharma D, Puri RD, Kotecha U et al.Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India. JIMD Rep.  2015 Jan 18.



5.      Tamhankar PM, Iyer SV, Ravindran S, Gupta N, Kabra M, Nayak C,et al. Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. Indian J Dermatol Venereol Leprol. 2015 81(1) 16-22.


6.      Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, et al. Prenatal diagnosis in India is not limited to sex selection. Genet Med. 2015. 17(1) 88.


7.      Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, et al. GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Am J Med Genet A. 2014. 164A(11) 2793-801.


8.      Gupta N, Kabra M, Kapoor S. Establishing National Neonatal Perinatal Database and birth defects registry network - need of the hour! Indian Pediatr. 2014. 51(9). 693-6.


9.      Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, et al. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A. 2014 164A(6) 1482-9.


10.  Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M, Gulati S. Cephalocraniocutaneous lipomatosis with neurocutaneous melanosis. J Child Neurol. 2014. 29(6) : 846-9.


11.  Arora K, Thukral A, Das RR, Gupta N, Kabra M, Agarwal R. Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings. Indian J Pediatr. 2014.  81(6). 614-6.


12.  Kapoor S, Gupta S, Kabra M. Prenatal screening: perspective for the paediatrician. Indian Pediatr. 2014. 51(12): 959-62.


13.  John J, Kawade A, Rongsen-Chandola T, Bavdekar A, Bhandari N, Taneja S, Antony K, Bhatnagar V, Gupta A, Kabra M, Kang G. Active surveillance for intussusception in a phase III efficacy trial of an oral monovalent rotavirus vaccine in India. vaccine.2014. 11;32 Suppl 1:A104-9.


14.  Kapil U, Pandey RM, Jain V, Kabra M, Sareen N, Bhadoria AS. Status of iodine eficiency disorder in district Udham Singh Nagar, Uttarakhand state India. Indian J Endocrinol Metab. 2014. 18(3): 419-21.


15.  Kapil U, Pandey RM, Prakash S, Kabra M, Sareen N, Bhadoria AS. Assessment of iodine deficiency in school age children in Nainital District, Uttarakhand State. Asia Pac J Clin Nutr. 2014; 23(2): 278-81.


16.  Jain K, Mohapatra T, Das P, Misra MC, Gupta SD, Ghosh M, Kabra M, Bansal VK, Kumar S, Sreenivas V, Garg PK. Sequential occurrence of preneoplastic lesions and accumulation of loss of heterozygosity in patients with gallbladder stones suggest causal association with gallbladder cancer. Ann Surg. 2014 Dec. ;260(6): 1073-80

17.  Kapil U, Kabra M, Sareen N, Khenduja P, Pande S. Iodine nutrition status amongst neonates in Kangra district, Himachal Pradesh. J Trace Elem Med Biol. 2014. 28(3): 351-3.


18.  Dubey R, Chakrabarty B, Gulati S, Sharma MC, Deopujari S, Baheti N, Santosh V, Pai G, Kabra M. Leukodystrophy presenting as acute-onset polyradiculoneuropathy. Pediatr Neurol. 2014. 50(6): 616-8.


19.  Choudhary A, Gulati S, Sagar R, Kabra M, Sapra S. Behavioral comorbidity in children and adolescents with epilepsy. J Clin Neurosci. 2014. ;21(8): 1337-40.


20.  Konanki R, Gulati S, Saxena R, Gupta AK, Seith A, Kumar A, Saxena A, Kabra M, Kalra V, Lakshmy R. Profile of prothrombotic factors in Indian children with ischemic stroke. J Clin Neurosci.  2014. 21(8): 1315-8.




D.Year 2013-2014

To include


E. Year 2012-2013


1.      1.Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P,Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK,Wang N, Crombez E, Bhirangi K, Mehta A. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am JHematol. 2013 Mar;88(3):179-84.


2.      Chakrabarty B, Kabra SK, Gulati S, Toteja GS, Lodha R, Kabra M, Pandey RM,Srivastava A. Peripheral neuropathy in cystic fibrosis: A prevalence study. J Cyst Fibrosis.  2013 Feb 4. doi:pii: S1569-1993(13)00012-X.. [Epub ahead of print]


3.      Choudhary A, Gulati S, Kabra M, Singh UP, Sankhyan N, Pandey RM, Kalra V. Efficacy of modified constraint induced movement therapy in improving upper limb function in children with hemiplegic cerebral palsy: A randomized controlled trial. Brain Dev. 2012 ,10.; S0387-7604


4.      4.Arya R, Sharma S, Gupta N, Kumar S, Kabra M, Gulati S. Schwartz Jampel syndrome in children. J Clin Neurosci. 2013 Feb;20(2):313-7.


5.      5. Gupta N, Kabra M, Häberle J. Mutation analysis of Indian patients with urea cycle defects. Indian Pediatr. 2012 Jul;49(7):585-6.


6.      6.Sahu JK, Gulati S, Kabra M, Arya R, Sharma R, Gupta N, Kaleekal T, Reeta Kh, Gupta YK. Evaluation of subclinical hypothyroidism in ambulatory children with controlled epilepsy on valproate monotherapy. J Child Neurol. 2012;27(5):594-7.


7.      Mehta P, Sinha A, Sami A, Hari P, Kalaivani M, Gulati A, Kabra M, Kabra SK, Lodha R, Bagga A. Incidence of acute kidney injury in hospitalized children. Indian Pediatr. 2012 Jul;49(7):537-42.


8.      Jain P, Yoganathan S, Sharma S, Motwani J, Kumar A, Kabra M, Gulati S. Congenital thrombotic thrombocytopenic purpura associated with moyamoya syndrome in a 3-year-old girl: a case report. J Child Neurol. 2012 ;27(10):1331-5.


9.      Raju KN, Choudhary N, Gulati S, Kabra M, Jaryal AK, Deepak KK, Pandey RM. Comparison of heart rate variability among children with well controlled versus refractory epilepsy: a cross-sectional study. Epilepsy Res. 2012 101(1-2):88-91.


10.  Gupta N, Ghosh M, Shukla R, Das GP, Kabra M. Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. Clin Dysmorphol. 2012 Jul;21(3):113-7.


11.  Ghosh M, Sharma S, Shastri S, Arora S, Shukla R, Gupta N, Deka D, Kabra M.Norrie disease: first mutation report and prenatal diagnosis in an Indian family. Indian J Pediatr. 2012 Nov;79(11):1529-31.


12.  Jain P, Sharma S, Sankhyan N, Sehgal R, Kumar A, Kabra M, Gulati S. Macrocephaly with diffuse white matter changes simulating a leukodystrophy in menkes disease. Indian J Pediatr. 2013 ;80(2):160-2


13.  Jain P, Sharma S, Sankhyan N, Gupta N, Kabra M, Gulati S. Imaging in neonatal maple  syrup urine disease. Indian J Pediatr. 2013 Jan;80(1):87-8.


14.  Bhat AS, Chaturvedi MK, Saini S, Bhatnagar S, Gupta N, Sapra S, Gupta SD,  Kabra M. Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors. Indian J Pediatr. 2013 ;80(2):114-7.


15.  Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 ;131(11):1761-73.


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