Publications
1. Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. Sinha R, Vasudevan A, Agarwal I, Sethi SK, Saha A, Pradhan S, Ekambaram S, Thaker N, Matnani M, Banerjee S, Sharma J, Singhal J, Ashraf S, Mandal K. Nephron. 2019 Oct 25:1-9.
2. Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Narayanan DL, Ranganath P, Aggarwal S, Dalal A, Phadke SR, Mandal K. Indian Pediatr. 2019 Dec 15;56(12):1017-1019.
3. Vici Syndrome with a Novel Mutation in EPG5. Moirangthem A, Mandal K, Ghosh A, Phadke SR. Indian Pediatr. 2019 Jul 15;56(7):603-605.
4. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children. Gupta S, Joshi K, Zaidi G, Sarangi AN, Mandal K, Bhavani N, Pavithran PV, Pillai MG, Singh SK, Godbole T, Bhatia V, Bhatia E. J Pediatr Endocrinol Metab. 2019 Jun 20.
5. Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. Gupta A, Naranje KM, Singh A, Pandita A, Gupta G, Mandal K, Pradhan M. Indian J Pediatr. 2019 Jul;86(7):645-647.
6. Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility. Lallar M, Srivastava P, Rai A, Saxena D, Mandal K, Phadke SR. J Genet. 2019 Mar;98(1).
7. Endocrine Manifestations of Von Hippel-Landau Disease.(Review article). Pradhan R, George N, Mandal K, Agarwal A, Gupta SK. Indian J Endocrinol Metab. 2019 Jan-Feb;23(1):159-164.
8. Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. Sharma P, Gambhir PS, Phadke SR, Mandal K. Clin Dysmorphol. 2019 Apr;28(2):94-97.
9. Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population. Mishra S, Srivastava A, Mandal K, Phadke SR. J Genet. 2018 Jun;97(2):405-410.
10. Phenotypic characterization of derivative 22 syndrome: case series and review. Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. J Genet. 2018 Mar;97(1):205-211. Review.
11. Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL). Mishra S, Pandey H, Srivastava P, Mandal K, Phadke SR. Indian J Pediatr. 2018 Dec;85(12):1061-1066
12. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. Lallar M, Rai A, Srivastava P, Mandal K, Gupta N, Kabra M, Phadke SR. Indian Pediatr. 2018 Jun 15;55(6):474-477. Epub 2018 Feb 9.
13. Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies (2017)Indian Journal of Pediatrics
14. Noonan syndrome in diverse populations (2017) American Journal of Medical Genetics, Part A
15. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome. Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR. Clin Dysmorphol. 2017 Apr;26(2):73-77.
16. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian pediatrics Narayanan DL, Pandey H, Moirangthem A, Mandal K, GuptR, Puri RD, Patil SJ, Phadke SR.Indian Pediatr. 2017 Aug 15;54(8):638-643. Epub 2017 Jun 4.
17. Cover Image, Volume 173A, Number 9, September 2017. American journal of medical genetics. Part A
18. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR. Am J Med Genet A. 2017 Jan;173(1):163-168.
19. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2. Amita M, Srivastava P, Mandal K, De S, Phadke SR. ndian J Pediatr. 2017 Mar;84(3):236- 237.
20. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.Srivastava P, Tuteja M, Dalal A, Mandal K, R Phadke S. J Genet. 2016 Dec;95(4):905-909.
21. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Clin Genet. 2016 Dec;90(6):496-508
22. Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy. Karyampudi A, Srivastava P, Mandal K, Yadav P, Ghoshal UC, Verma A, Phadke SR. Clin Dysmorphol. 2016 Oct;25(4):156-62.
23. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M, Phadke SR. Clin Dysmorphol. 2016 Apr 18.
24. Bidirectional ventricular tachycardia of unusual etiology. Praloy Chakraborty, Bhavna Kaul, Kausik Mandal, H.S. Isser, Sandeep Bansal, Anandaraja Subramanian. Indian Pacing Electrophysiol J. 2016 Feb 23;15(6):296-9.
25. Incessant left ventricular tachycardia of unusual etiology. Chakraborty P, Isser HS, Arava S, Mandal K. Indian Pacing Electrophysiol J. 2016 May - Jun;16(3):104-106.
26. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Am J Med Genet A. 2016 Oct;170(10):2719-30.
27. Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation. Mandal K, Agarwal M, Boggula VR, Patil SJ, Phadke SR. Clin Dysmorphol. 2016 Apr;25(2):63-7
28. Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum. Narayanan DL , Srivastava P, Mandal K, Gambhir PS, Phadke SR. Indian Pediatr. 2016;53:134-6.
29. Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene. Narayanan DL, Shukla A, Siddesh AR, Stephen J, Srivastava P, Mandal K, Phadke SR. Indian J Pediatr. 2016 Feb 1. [Epub ahead of print]
30. Smith-Magenis Syndrome: Face Speaks. Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR. Indian J Pediatr. 2015 Dec 17. [Epub ahead of print]
31. Potter's sequence: A story of the rare, rarer and the rarest. Sarkar S, DasGupta S, Barua M, Ghosh R, Mondal K, Chatterjee U, Datta C. Indian J Pathol Microbiol. 2015 Jan-Mar;58(1):102-4.
32. Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes. Shukla A, Mandal K, Patil SJ, Kishore Y, Phadke SR, Girisha KM. Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37116. [Epub ahead of print]
33. Prenatal diagnosis in India is not limited to sex selection. Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M.
34. Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation. Singla S, Mandal K, Sharma S, Chhapola V. J Pediatr Neurosci. 2014 May;9(2):178-81.
35. Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature. Ekbote AV, Danda S, Zankl A, Mandal K, Maguire T, Ungerer K. J Clin Res Pediatr Endocrinol. 2014;6(1):40-6.
36. A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A. Pediatr Dermatol. 2013 Mar-Apr;30(2):250-2.
37. Fanconi- Bickel Syndrome: mutation in an Indian patient. Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S. Indian J Pediatr. 2012 Jun;79(6):810-2.
38. Prenatal diagnosis of Apert Syndrome in Second Trimester – A Case Report : Phadke S R, Mandal K, Ranganath P; Perinatology; 2012; 12:4; 159-62
39. Aetiologic spectrum of mental retardation & developmental delay in India. Aggarwal S, Bogula VR, Mandal K, Kumar R, Phadke SR. Indian J Med Res. 2012 Sep;136(3):436-44.
40. Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. Koshy B, Mandal K, Srivastava VM, Loius PT, Danda S. Clin Dysmorphol. 2011 Jul;20(3):148-51.
41. Homocysteine, fibrinogen and lipid profile in children of young adults with coronary artery disease. Khalil A, Mandal K, Khalil S, Mallika V. Indian Pediatr. 2011 Feb;48(2):156-7.
42. Vitamin D Receptor Gene Polymorphisms in Indian Children with Idiopathic Nephrotic Syndrome Tabrez Jafar, Gaurav Tripathi, Abass A. Mehndi, Kaushik Mandal, Sanjeev Gulati, Raj K Sharma, Vinod. P. Baburaj, Shaily Awasthi, Suraksha Agrawal. Int J Hum Genet, 2009; 9(1): 49-55. Published online: 04 Sep 2017
43. Does cytokine gene polymorphism affect steroid responses in idiopathic nephrotic syndrome? Tripathy G, Jafar T, Mandal Kaushik et al. Indian J Med Sci, 62(10), October 2008: 383-91
44. Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. Mandal K, Boggula VR, Borkar M, Agarwal S, Phadke SR. Indian J Pediatr. 2009 Oct;76(10):1027-31.
45. Fabry disease: a treatable lysosomal storage disorder. Phadke SR, Mandal K, Girisha KM. Natl Med J India. 2009 Jan-Feb;22(1):20-2.
46. Milder form of pachydermoperiostosis: a report of four cases. Girisha KM, Mandal K, Phadke SR. Clin Dysmorphol. 2009 Apr;18(2):85-9.
47. Congenital swan neck deformity of fingers with syndactyly. Mandal K, Phadke SR, Kalita J. Clin Dysmorphol. 2008 Apr;17(2):109-11.
48. Berardinelli-Seip congenital lipodystrophy. Mandal K, Aneja S, Seth A, Khan A. Indian Pediatr. 2006 May;43(5):440-5.
49. Acute transverse myelitis following hepatitis E virus infection. Mandal K, Chopra N. Indian Pediatr. 2006 Apr;43(4):365-6.
Book Chapters
1. PG Textbook of Pediatrics; SECTION 3: Metabolic Disorders; Chapter3.13 Carbohydrate Metabolism Defects
2. Pediatric Office Practice: Chapter on Genetic and metabolic disorders
3. Genetics in Tropics: Tropical Pediatrics
4. Congenital anomalies of brain and spinal cord: Pediatric neurology
1. Saxena D, Phadke SR. Prenatal diagnosis of congenital high airway obstruction syndrome: our experience from a tertiary care center. Int J Reprod Contracept Obstet Gynecol 2020;9:3858-61.
2. Rai A, Mandal K, Saxena D, Lallar M, Phadke SR. Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis [published online ahead of print, 2020 Apr 1]. Indian J Pediatr. 2020;10.1007/s12098-020-03248-5. doi:10.1007/s12098-020- 03248-5
3. Lallar M, Srivastava P, Rai A, Saxena D, Mandal K, Phadke SR. Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility. J Genet. 2019 Mar;98.pii: 6
4. Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. Phenotypic characterization of derivative 22 syndrome: case series and review. J Genet. 2018 Mar;97(1):205-211.
5. Saxena D, Agarwal M, Gupta D, Agrawal S, Das V, Phadke SR. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception. J Postgrad Med 2016 Oct-Dec;62(4):239-41.
6. Saxena D, Srivastava P, Phadke SR. A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy. Indian J Nephrol 2016 Sep;26(5):364‐7.
7. 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.
8. Srivastava P, Saxena D, Joshi S, Phadke SR. Consanguinity as an adjunct diagnostic tool. Indian J Pediatr.2016 March;83(3):258–260.
9. D. Saxena, M.K. Misra, F. Parveen, S.R. Phadke, S. Agrawal. The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss. Placenta. 2015 Feb;36(2):226-231.
10. D. Saxena, S.R. Phadke. Prader – Willi syndrome due to an unbalanced chromosomal rearrangement. Genetic Clinics (Clinical Vignette). 2015 Jan-March;8(1):3-5.
11. D. Saxena. Next generation sequencing: window to a new era of molecular diagnostics. Genetic Clinics (GeNeXprESS). 2014 Oct-Dec;7(4):15-16.
12. Kandasamy S, Saxena D, Kishore Y, Phadke SR. Williams syndrome: a case series. Indian Pediatr. 2014May;51(5):411-2.
1. Masih S, Moirangthem A, Phadke SR. Renpenning syndrome in an Indian patient. Am J Med Genet A. 2020 Feb;182(2):293-295. doi: 10.1002/ajmg.a.61457. Epub 2019 Dec 16. PubMed PMID: 31840915.
2. Girisha KM, Bhavani GS, Shah H, Moirangthem A, Shukla A, Kim OH, Nishimura G, Mortier GR. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. Am J Med Genet A. 2020 Feb;182(2):338-347. doi: 10.1002/ajmg.a.61414. Epub 2019 Nov 22. PubMed PMID: 31755234.
3. Moirangthem A, Mandal K, Ghosh A, Phadke SR. Vici Syndrome with a Novel Mutation in EPG5. Indian Pediatr. 2019 Jul 15;56(7):603-605. PubMed PMID: 31333218.
4. Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM. Report of second case and clinical and molecular characterization of Eiken syndrome. Clin Genet. 2018 Nov;94(5):457-460.
5. Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM. Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248. PubMed PMID: 30303820.
6. Moirangthem A, Phadke SR. Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia. Indian J Pediatr. 2018 Feb;85(2):102-107. doi: 10.1007/s12098-017-2478-y. Epub 2017 Nov 9. PubMed PMID: 29119463.
7. Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome. Clin Dysmorphol. 2017 Apr;26(2):73-77.
8. Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD, Patil SJ, Phadke SR. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian Pediatr. 2017 Aug 15;54(8):638-643.
9. Amita M, Srivastava P, Agarwal D, Phadke SR Floating Harbor syndrome. Indian J Pediatr. 2016 Aug;83(8):896-7.
10. Amita M, Srivastava P, Mandal K, De S, Phadke SR. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.. Indian J Pediatr. 2017 Mar;84(3):236-237.
11. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M and Phadke S R. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Clinical Dysmorphology 2016, 25:113–120
1. Sarkar MK, Tsoi LC, Xing X, Liang Y, Berthier CC, Swindell WR, Wolterink L, Patrick M, Hile GA, Tsou PS, Beamer MA, Srivastava A, Bielas SL, Liu J, Harms PW1, Getsios S, Johnston A, Elder JT, Voorhees JJ, Kahlenberg JM, Gudjonsson JE. Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal derived interferon kappa. Ann. Rheum. Dis. 2018; 77(11): 1653-1664. IF: 12.3
2. Srivastava A, Srivastava K, Hebbar M, Galada C, Kadavigrere R, Cao Xuhong, Fengyun Su, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. Eur J Hum Genet. 2018; 26(11): 1582-1587. IF: 4.3
3. Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 2018; 20(9): 1022-1029. IF: 9.9
4. Bélanger C, Bérubé-Simard F, Leduc E, Bernas G, Campeau P, Lalani S, Martin D, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of co-transcriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci 2018; 115(4): E620-E629. IF: 9.6
5. Jordan V, Fregeau B, Jessica G, Wapner J, Balci TB, Carter M, Bernat J, Moccia A, Srivastava A, Martin D, Bielas S, Pappas J, S Melissa, Rio M, Cantagrel V, Lewis AM, Scaglia F, Kohler J, Bernstein JA, Zornio PA, Rosenfeld JA, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with RERE mutations. Hum Mutat 2018; 39(5): 666-675. IF: 5.1
6. Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A. Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. Congenit Anom (Kyoto). 2018; 58(5): 181-182. IF: 1.6
7. Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A. Homozygous c.359del variant in
i. MGME1 is associated with early onset cerebellar ataxia. Eur J Med Genet. 2017; 60(10): 533- ii. 535. IF: 2.08. Srivastava A, McGrath B, Bielas SL. Role of Histone H2A ubiquitination in Neurodevelopmental Disorders. Trends Genet. 2017; 33(8): 566-578. IF: 10.8
9. Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas SL, Girisha KM. Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome. J Hum Genet. 2017; 62(7): 723-727. IF: 3.5
10. Srivastava A, KC Ritesh, Tsan YC, Liao R, Hannibal M, Keegan C, Chinnaiyan AM, Martin DM, Bielas SL. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers Syndrome. Hum Mol Genet. 2016; 25(3): 597-608. IF: 5.5
11. Kc R, Srivastava A, Wilkowski JM, Richter CE, Shavit JA, Burke DT, Bielas SL. Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection. Sci Rep. 2016; 25 (6): 32048. IF: 4.5
12. Kumar S, Mishra A, Srivastava A, Bhatt M, Garg N, Agarwal SK, Pande S, Mittal B. Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction. J Genet. 2016; 95(2): 263-72. IF: 1.1
13. Moorthy N, Garg N, Kapoor A, Tewari S, Kumar S, Sinha A, Shrivastava A, Goel PK. In Reply– Time to Focus on Preventing Coronary Artery Disease Through Exercise Training Among Normoglycemic Individuals. Mayo Clin Proc. 2015; 90(3): 418-9. IF: 7.0
14. Kumar S, Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Significant role of ADRB3 rs4994 towards development of coronary artery disease. Coron Artery Dis. 2014; 25(1): 29-34. IF: 1.8
15. Sharma KL, Rai R, Srivastava A, Sharma A, Misra S, Kumar A, Mittal B. A multigenic approach to evaluate genetic variants of PLCE1, LXRs, MMPs, TIMPs and CYP genes in gallbladder cancer predisposition. Tumor Biol. 2014; 35(9): 8597-606. IF: 3.6
16. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Genetic predisposition to left ventricular dysfunction: a multigenic and multi-analytical approach. Gene. 2014; 546(2): 309-17. IF: 2.6
17. Garg N, Moorthy N, Kapoor A, Tewari S, Kumar S, Sinha A, Shrivastava A, Goel PK. Hemoglobin A(1c) in nondiabetic patients: an independent predictor of coronary artery disease and its severity. Mayo Clin Proc. 2014; 89(7): 908-16. IF: 7.0
18. Von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schonfels, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J. Genetic and functional identification of the likely causative variant for gallstone disease at the ABCG5/8 lithogenic locus. Hepatology. 2013; 57(6): 2407-17. IF: 14.9
19. Srivastava A, Mishra A, Singh R, Rai R, Srivastava N, Mittal B. Multi-analytic approach elucidates significant role of hormonal and hepatocanalicular transporter genetic variants in gallstone disease in north Indian population. PLoS One. 2013; 8(4): e59173. IF: 2.8
20. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Role of inflammatory gene polymorphisms in LVD susceptibility in CAD patients. Cytokine. 2013; 61(3): 856-61. IF: 3.1
21. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Role of Angiotensin II type I (AT1) Receptor Polymorphism in Left Ventricular Dysfunction. Indian Heart J 2015; 67(3): 214-21. IF: 0.6
22. Srivastava A, Sharma KL, Srivastava N, Mishra S, Mittal B. Significant role of Estrogen and Progesterone receptor sequence variants in Gallbladder Cancer predisposition: A Multi-analytical strategy. PLoS One. 2012; 7(7): e40162. IF: 2.8
23. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B Impact of renin angiotensin-aldosterone system gene polymorphisms on left ventricular dysfunction in coronary artery disease patients.
i. Dis Markers. 2012; 32(1): 33- 41. IF: 2.824. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Association of matrix metalloproteinases (MMP2, MMP7 and MMP9) genetic variants with left ventricular dysfunction in coronary artery disease patients. Clin Chim Acta. 2012; 413(19-20): 1668-74. IF: 2.9
25. Srivastava A, Srivastava A, Srivastava N, Choudhuri G, Mittal B. Organic anion transporter 1B1 (SLCO1B1) polymorphism and gallstone formation: High incidence of Exon4 CA genotype in female patients in North India. Hepatol Res. 2011; 41(1): 71-8. IF: 3.4
26. Srivastava A, Garg N, Mittal T, Khanna R, Gupta S, Seth PK, Mittal B Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients. PLoS One. 2011; 6(9): e24123. IF: 2.8
27. Srivastava A, Garg N, Srivastava A, Srivastava K, Mittal B. Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. Dis Markers. 2010; 28(5): 307-13. IF: 2.8
28. Srivastava A, Srivastava A, Srivastava K, Choudhuri G, Mittal B. Role of ABCG8 D19H 29. (rs11887534) variant in gallstone susceptibility in northern India. J Gastroenterol Hepatol. 2010; 25(11): 1758-62. IF: 3.6 (Best-highlighted article by the editor).
BOOK CHAPTERS
31. 32. Mittal B, Mishra A, Srivastava A, Garg N. Emerging Role of Genetic Variants of Matrix Metalloproteinases Genes in Left Ventricular Dysfunction. In: Dhalla N., Chakraborti S. (eds) Role of Proteases in Cellular Dysfunction. Advances in Biochemistry in Health and Disease, 2014; vol 8. Springer, New York, NY
33. Mittal B, Mishra A, Srivastava A, Kumar S, Garg N. Matrix metalloproteinase in coronary artery disease. Adv Clin Chem. 2014; 64:1-72
FELLOWSHIP AND AWARDS
34. Ramalingaswami Fellow, Department of Biotechnology (DBT), Govt. of India
35. Innovative Young Biotechnologist Award (IYBA), DBT, Govt. of India
36. Best Postdoctoral Poster award (2017) in the Department of Human Genetics, University of Michigan Medical School. Awarded to one postdoctoral fellow in the department at yearly retreat. Awardee receives a cash prize.
37. Awarded Senior Research Fellowship from Indian Council of Medical Research.
38. Travel Grant from several funding agencies namely DST, DBT, CSIR and ICMR, India to attend the 12th International Congress of Human Genetics, October 11-15, 2011, Montreal, Canada.
39. Best Poster Award at 35th Annual Conference of the Indian Society of Human Genetics (ISHG) & an International Symposium on Role of Genomics in Clinical Practice 2010, Lucknow, India.
40. Qualified in Graduate Aptitude Test in Engineering (GATE) 2008, conducted by Govt. of India.
41. Stood 1st in quiz competition on CSIR foundation day at CDRI, September 2004