1. INDEXED PUBLICATIONS
1. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad C K, Babu A S, Girisha KM, Verma
IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, H SV, Kapoor S, Bhat M,
Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Identification and
Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with
Mucopolysaccharidoses (MPS) type I and type II. Clin Genet. 2016 May 5. doi:
10.1111/cge.12795. [Epub ahead of print] Impact Factor- 3.931
2. Aggarwal S, Das Bhowmik A, Ramprasad VL, Murugan S, Dalal A. A splice site mutation in
HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism:
Further delineation of the phenotypic spectrum. Am J Med Genet A. 2016 Apr 25. doi:
10.1002/ajmg.a.37654. Impact factor: 2.159
3. Aggarwal S, Bahal A, Dalal A. Renal dysfunction in sibs with band like calcification with
simplified gyration and polymicrogyria: Report of a new mutation and review of literature.
Eur J Med Genet. 2016 Jan 12;59(1):5-10. doi: 10.1016/j.ejmg.2015.11.014. Impact Factor
1.592
4. Aggarwal S, Jain SJ, Das Bhowmik A, Tandon A, Dalal A. Molecular studies on parents after
autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis
phenotype. Am J Med Genet A. 2015 Jul 14. Impact factor: 2.159
5. Bhowmik AD, Dalal AB, Matta D, Sundaram C, Aggarwal S. Targeted Next Generation
Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital
Muscular Dystrophy Patient. Indian J Pediatr. 2015 Jun 25. Impact factor- 0.867
6. Aggarwal S, Phadke SR. Medical Genetics and Genomic Medicine in India: Current Status
and Opportunities Ahead. Molecular Genetics and Genomic Medicine 2015 May;3(3):1.60-
71.
7. Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M,
Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S,
Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR,
Hariharan SV, Girisha KM. Novel and recurrent mutations in WISP3 and an atypical
phenotype. Am J Med Genet A. 2015 May 18. Impact factor: 2.159
8. Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, Danda S, Gupta N, Kabra
M, Hebbar SA, Bhat RY, Matta D, Ekbote AV, Puri RD, Phadke SR, Gowrishankar K, Aggarwal
S, Ranganath P, Sharda S, Kamate M, Datar CA, Bhat K, Kamath N, Shah H, Krishna S,
Gopinath PM, Verma IC, Nagarajaram HA, Satyamoorthy K, Girisha KM. Recurrent and novel
GLB1 mutations in India. Gene. 2015 Aug 10;567(2):173-81. Impact factor- 2.185

2. 9. Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A. Novel ABCA12 mutations in harlequin
ichthyosis: a journey from photo diagnosis to prenatal diagnosis. Gene. 2015 Feb
10;556(2):254-6. doi: 10.1016/j.gene.2014.12.002. Epub 2014 Dec 3. Impact factor- 2.185
10. Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, V H S, Gupta N, Patil SJ,
Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Prenatal diagnosis in India is not limited to
sex selection. Genet Med. 2014 Oct 16. doi: 10.1038/gim.2014.149. Impact factor-7.329
11. Arora R, Aggarwal S, Deme S. Ghosal hematodiaphyseal dysplasia-a concise review including
an illustrative patient. Skeletal Radiol. 2014 Aug 30. Impact factor- 1.541
12. Aggarwal S, Coutinho MF, Dalal AB, Mohamed Nurul Jain SJ, Prata MJ, Alves S. Prenatal
skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene.
2014 Mar 28. pii: S0378-1119(14)00391-6. doi: 10.1016/j.gene.2014.03.053. Impact factor-
2.185
13. Aggarwal S, Uttarilli A, Dalal AB.GAPO syndrome with deafness- New feature or incidental
finding? Clin Dysmorphol. 2013 Oct;22(4):161-3. Impact factor-0.608
14. Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B,
Perrier J, Aggarwal S, Dalal A, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H,
Miyake N, Matsumoto N. Coffin-Siris syndrome is a SWI/SNF complex disorder.
Clin Genet. 2013 Jul 1. doi: 10.1111/cge.12225. [Epub ahead of print]. Impact factor-3.931
15. Love JM, Prosser D, Love DR, Chintakindi KP, Dalal A, Aggarwal S. A Novel Glycine
Decarboxylase Gene Mutation in an Indian Family with Nonketotic Hyperglycinemia. J Child
Neurol. 2013 Jan 24. Impact factor- 1.385
16. Aggarwal S. Skeletal dysplasias with increased bone density: Evolution of molecular
pathogenesis in the last century. Gene. 2013 May 5.16. Impact factor- 2.185
17. Aggarwal S, Phadke SR. Recurrence of Urorectal Septum Malformation Sequence Spectrum
anomalies in siblings: Time to explore the genetics. Am J Med Genet A. 2013 May 17. doi:
10.1002/ajmg.a.35950. Impact factor: 2.159
18. Aggarwal S, Bogula VR, Mandal K, Kumar R, Phadke SR. Aetiologic spectrum of mental
retardation & developmental delay in India. Indian J Med Res. 2012 Sep;136(3):436-44.
Impact factor- 2.061
19. Phadke SR, Agarwal M, Aggarwal S. Late termination of pregnancy for fetal abnormalities:
The perspective of Indian lay persons and medical practitioners. Prenatal Diagnosis 2011;
31: 1286–1291. Impact factor- 3.268

3. 20. Aggarwal S, Maras JS, Alam S, Khanna R, Gupta SK, Ahuja A. Novel nonsense mutation of
ABHD5 in Dorfman-Chanarin syndrome with unusual findings: A challenge for genotype-
phenotype correlation. European Journal of Medical Genetics 2012; 55: 173-177. Impact
factor: 1.592
21. R. Angalena, S. Aggarwal, S. R. Phadke, A. Dalal. Compound heterozygote condition in
beta thalassemia major due to a novel single nucleotide deletion (–T) at codon 69 in
association with IVS 1-5 (G>C) mutation. Int Jnl Lab Hem 2012 Mar 12. Impact factor-
1.819
22. Aggarwal S. Bilateral anterior lens dislocation: the genetic perspective. Lancet 2012; 379:
1392. Impact factor- 45.217
23. Aggarwal S, Phadke SR. Run-on mutation in the PAX6 gene and chorioretinal degeneration
in autosomal dominant aniridia. Molecular Vision 2011; 17:1305-1309. Impact factor- 2.245
24. Aggarwal S, Parveen F, Faridi RM ,Phadke SR, Borkar M, Agrawal S. Vascular Endothelial
Growth Factor polymorphisms in Indian patients with recurrent miscarriages. Reprod
Biomed Online 2011 Jan;22(1):59-64. Impact factor- 2.709
25. Phadke SR, Aggarwal S, Kumari N. The expanding spectrum of Elejalde Syndrome:
Overlap with other disorders of overgrowth. Clinical Dysmorphology 2010 Dec 15.
Impact factor- 0.608
26. Gupta G, Aggarwal S, Phadke SR. Intracardiac Echogenic Focus and Fetal outcome.
Journal of Clinical Ultrasound 2010 Nov-Dec;38(9):466-469. DOI: 10.1002/jcu.20741.
Impact factor- 0.691
27. Aggarwal S, Arya V, Agarwal S. Establishing RHD genotypes in India : A step into the
future of fetal and neonatal hemolytic disease prevention. Transfusion Medicine 2010
Dec 28. doi: 10.1111/j.1365-3148.2010.01060.x. Impact factor- 1.647
28. Aggarwal S, Dimri N, Tandon I, Agarwal S. Preeclampsia in North Indian women –the
contribution of genetic polymorphisms. J Obstet Gynaecol Res. 2011 May 12. doi:
10.1111/j.1447-0756.2010.01523.x. Impact factor- 1.072
29. Guleria K ,Bansal S ,Agarwal N, Grover V, Women With Septic Abortion: Who, How & Why?
A Demographic, Psychosocial and Clinical Profile. Indian Journal of Public Health 2006 Apr-
Jun;50(2):95-96.
30. Aggarwal S, Gupta G, Phadke SR. Good outcome in two foetuses with echogenic lungs.
Perinatology 2009;11(2):82-85.
NON INDEXED PUBLICATIONS
1. Shagun Aggarwal.Looking beyond- the Vision of a blind man. Genetics Clinics (Official
publication of Indian Academy of Medical Genetics) 2012;5(2):15.

4. 2. Shagun Aggarwal. Fetal Therapy- Current Approaches and Future Possibilities. Genetic
Clinics (Official publication of Indian Academy of Medical Genetics) 2013; 6(4): 12-18.
3. Priyanka Srivsatava, Shagun Aggarwal. Fragile X syndrome Revisited- Novel
Testing,Screening and Treatment Strategies. Genetic Clinics (Official publication of Indian
Academy of Medical Genetics) 2014; 7(1):6-10.
4. Shagun Aggarwal. Disorders with Increased Bone Density. Genetic Clinics (Official
publication of Indian Academy of Medical Genetics) 2010;3(1):10-15.
CHAPTERS IN BOOKS
1. Shagun Aggarwal,Shubha Phadke. Genetic and Enviornmental modifiers of Non-
Transfusion Dependent Thalassemias- In Thalassemia-National guidelines for
management of transfusion dependent and Non-transfusion dependent Thalassemia.
Ed. Anupam Sachdeva. 2014.
2. Shagun Aggarwal,Ashwin Dalal. Chromosomal Disorders. In Post Graduate Textbook of
Pediatrics. Ed Piyush Gupta. 2015