Article

Divya, Pasumarthi and Gupta, N. and Sheth, J. and Jain, J.M.N. and Rungsung, I. and Kabra, M. and Ranganath, Prajnya and Aggarwal, Shagun and Phadke, S.R. and Girisha, K.M. and Shukla, A. and Datar, C. and Verma, I.C. and Puri, R.D. and Bhavsar, R. and Mistry, M. and Sankar, V.H. and Gowrishankar, K. and Agrawal, Divya and Nair, M. and Danda, S. and Soni, J.P. and Dalal, Ashwin (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65 (11). pp. 971-984. ISSN 1434-5161

Aggarwal, Shagun and Vineeth, V.S. and Das Bhowmik, A. and Tandon, A. and Kulkarni, A. and Dhanya Lakshmi, N. and Bhattacherjee, Amrita and Dalal, Ashwin (2020) Exome sequencing for perinatal phenotypes: the significance of deep phenotyping. Prenatal Diagnosis, 40 (2). pp. 260-273. ISSN 0197-3851

Pan, Y.E. and Tibbe, D. and Harms, F.L. and Reißner, C. and Becker, K. and Dingmann, B. and Mirzaa, G. and Kattentidt‐Mouravieva, A.A. and Shoukier, M. and Aggarwal, Shagun and Missler, M. and Kutsche, K. and Kreienkamp, H.J. (2020) Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization. Journal of Neurochemistry. ISSN 0022-3042 (In Press)

Dhanya Lakshmi, N. and Ranganath, P. and Aggarwal , Shagun and Dalal, Ashwin and Phadke, S.R. and Mandal, K. (2019) Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Indian Pediatrics, 56 (12). pp. 1017-1019. ISSN 0019-6061

Nerakh, Gayatri and Tandon, A. and Dalal, Ashwin and Aggarwal, Shagun (2019) Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel. Journal of Fetal Medicine, 6 (3). pp. 151-154. ISSN 2348-1153

Karthik, T. and Ranganath, P. and Ramachandran, A. and Uppin, M.S. and Sreeja, P. and Aggarwal, Shagun and Lakshmi, D. and Meena, A.K. and Dalal, Ashwin (2019) Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatrics, 56 (7). pp. 556-559. ISSN 0019-6061

Dutta, Usha and Swamy, Venugopala and Rajitha, Ponnala and Aggarwal, Shagun and Dalal, Ashwin (2019) Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS. Journal of Reproduction and Infertility, 20 (2). pp. 109-114. ISSN 2228-5482

Karthik, T. and Aggarwal, Shagun and Bhattacherjee, Amrita and Das Bhowmik, A. and Dalal, Ashwin (2019) Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Molecular Syndromology, 10 (3). pp. 177-182. ISSN 1661-8769

Dhanya Lakshmi, N. and Matta, D. and Gupta, N. and Kabra, M. and Ranganath, P. and Aggarwal, Shagun and Phadke, S.R. and Datar, C. and Gowrishankar, K. and Kamate, M. and Jain, J.M.N. and Dalal, Ashwin (2019) Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of Human Genetics, 64 (4). pp. 323-331. ISSN 1434-5161

Vineeth, V.S. and Das Bhowmik, A. and Balakrishnan, S. and Dalal, Ashwin and Aggarwal, Shagun (2019) Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. Journal of Human Genetics, 64 (1). pp. 183-189. ISSN 1434-5161

Das Bhowmik, A. and Dalal, Ashwin and Tandon, A. and Aggarwal, Shagun (2018) Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. Journal of Obstetrics and Gynaecology Research, 44 (12). pp. 2181-2185. ISSN 1341-8076

Aggarwal, Shagun and Das Bhowmik, A. and Tandon, A. and Dalal, Ashwin (2018) Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus. European Journal of Medical Genetics, 61 (7). pp. 399-402. ISSN 1769-7212

Karthik, T. and Venugopal , V. and Dalal, Ashwin and Aggarwal, Shagun (2018) Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. American Journal of Medical Genetics A, 176 (4). pp. 1006-1010. ISSN 1552-4825

Aggarwal, Shagun and Tandon, A. and Das Bhowmik, A. and Dalal, Ashwin (2018) Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. American Journal of Medical Genetics Part A, 176 (2). pp. 499-501. ISSN 1552-4825

Aggarwal, Shagun and Tandon, A. and Das Bhowmik, A. and Jain, J.M.N. and Dalal, Ashwin (2018) A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series. Fetal and Pediatric Pathology, 37 (1). pp. 49-68. ISSN 1551-3815

Uttarilli, Anusha and Ranganath, P. and Matta, D. and Jain, J.M.N. and Krishnaprasad, C. and Sobhan Babu, A. and Girisha, K.M. and Verma, I.C. and Phadke, S.R. and Mandal, K. and Puri, R.D. and Aggarwal, Shagun and Danda, S. and Sankar, V.H. and Kapoor, S. and Bhat, M. and Gowrishankar, K. and Hasan, A.Q. and Nair, M. and Nampoothiri, S. and Dalal, Ashwin (2016) Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clinical Genetics, 90 (6). pp. 496-508. ISSN 0009-9163

Das Bhowmik, A. and Dalal, Ashwin and Matta, D. and Rukmini, M.K. and Kanikannan, M.A. and Aggarwal, Shagun (2016) Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. Neuromuscular Disorders, 26 (11). pp. 809-814. ISSN 0960-8966

Ranganath, P. and Matta, D. and Bhavani, G.S. and Wangnekar, S. and Jain, J.M.N. and Verma, I.C. and Kabra, M. and Puri, R.D. and Danda, S. and Gupta, N. and Girisha, K.M. and Sankar, V.H. and Patil, S.J. and Radha Rama Devi, A. and Bhat, M. and Gowrishankar, K. and Mandal, K. and Aggarwal, Shagun and Tamhankar, P.M. and Tilak, P. and Phadke, S.R. and Dalal, Ashwin (2016) Spectrum of SMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics Part A, 170 (10). pp. 2719-2730. ISSN 1552-4825

Aggarwal, Shagun and Das Bhowmik, A. and Ramprasad, V.L. and Murugan, S. and Dalal, Ashwin (2016) A splice site mutation inHERC1leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. American Journal of Medical Genetics Part A, 170 (7). pp. 1868-1873. ISSN 1552-4825

Das Bhowmik, A. and Dalal, Ashwin and Matta, D. and Sundaram, C. and Aggarwal, Shagun (2016) Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient. Indian Journal of Pediatrics, 83 (4). pp. 354-355. ISSN 0019-5456

Lakkireddy, Maheshwar and Aggarwal, Shagun and Vijaykrishna, C. and Vasundhara, S.C. and Madhulatha, K. (2016) Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature. Journal of Orthopaedic Case Reports, 6 (1). pp. 69-71. ISSN 2250-0685

Aggarwal, Shagun and Bahal, Ashish and Dalal, Ashwin (2016) Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. European Journal of Medical Genetics, 59 (1). pp. 5-10. ISSN 1769-7212

Aggarwal, Shagun and Jain, S.J.M.N. and Das Bhowmik, A. and Tandon, A. and Dalal, Ashwin (2015) Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype. American Journal of Medical Genetics Part A, 167 (11). pp. 2858-2860. ISSN 1552-4825

Bhavani, G.S. and Shah, H. and Dalal, Ashwin and Shukla, A. and Danda, S. and Aggarwal, Shagun and Phadke, S.R. and Gupta, N. and Kabra, M. and Gowrishankar, K. and Gupta, A. and Bhat, M. and Puri, R.D. and Bijarnia-Mahay, S. and Nampoothiri, S. and Mohanasundaram, K.M. and Rajeswari, S. and Kulkarni, A.M. and Kulkarni, M.L. and Ranganath, P. and Radha Rama Devi, A. and Hariharan, S.V. and Girisha, K.M. (2015) Novel and recurrent mutations inWISP3and an atypical phenotype. American Journal of Medical Genetics Part A, 167 (10). pp. 2481-2484. ISSN 1552-4825

Bidchol, A.M. and Dalal, Ashwin and Trivedi, R. and Shukla, A. and Nampoothiri, S. and Sankar, V.H. and Danda, S. and Gupta, N. and Kabra, M. and Hebbar, S.A. and Bhat, R.Y. and Matta, D. and Ekbote, A.V. and Puri, R.D. and Phadke, S.R. and Gowrishankar, K. and Aggarwal, Shagun and Ranganath, P. and Sharda, S. and Kamate, M. and Datar, C.A. and Bhat, K. and Kamath, N. and Shah, H. and Krishna, S. and Gopinath, P.M. and Verma, I.C. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2015) Recurrent and novel GLB1 mutations in India. Gene, 567 (2). pp. 173-181. ISSN 0378-1119

Aggarwal, Shagun and Phadke, S.R. (2015) Medical genetics and genomic medicine in India: current status and opportunities ahead. Molecular Genetics & Genomic Medicine, 3 (3). pp. 160-171. ISSN 2324-9269

Arora, Richa and Aggarwal, Shagun and Deme, Swaroopa (2015) Ghosal hematodiaphyseal dysplasia. A concise review including an illustrative patient. Skeletal Radiology, 44 (3). pp. 447-450. ISSN 0364-2348

Aggarwal, Shagun and Kar, A. and Bland, P. and Kelsell, D. and Dalal, Ashwin (2015) Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis. Gene, 556 (2). pp. 254-256. ISSN 1879-0038

Dalal, Ashwin and Ranganath, P. and Phadke, S.R. and Kabra, M. and Danda, S. and Puri, R.D. and Sankar, V.H. and Gupta, N. and Patil, S.J. and Mandal, K. and Tamhankar, P.M. and Aggarwal, Shagun and Agarwal, Meenal (2015) Prenatal diagnosis in India is not limited to sex selection. Genetics in Medicine, 17 (1). p. 88. ISSN 1098-3600

Aggarwal, Shagun and Coutinho, M.F. and Dalal, Ashwin and Jain, S.J.M.N. and Prata, M.J. and Alves, S. (2014) Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene, 542 (2). pp. 266-268. ISSN 1879-0038

Tsurusaki, Y. and Okamoto, N. and Ohashi, H. and Mizuno, S. and Matsumoto, N. and Makita, Y. and Fukuda, M. and Isidor, B. and Perrier, J. and Aggarwal, Shagun and Dalal, Ashwin and Al-Kindy, A. and Liebelt, J. and Mowat, D. and Nakashima, M. and Saitsu, H. and Miyake, N. and Matsumoto, N. (2014) Coffin-Siris syndrome is a SWI/SNF complex disorder. Clinical Genetics, 85 (6). pp. 548-554. ISSN 1399-0004

Love, J.M. and Prosser, D. and Love, D.R. and Krishnaprasad, C. and Dalal, Ashwin and Aggarwal, Shagun (2014) A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia. Journal of Child Neurology, 29 (1). pp. 122-7. ISSN 1708-8283

Aggarwal, Shagun (2013) Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century. Gene, 528 (1). pp. 41-45. ISSN 0378-1119

Aggarwal, Shagun and Uttarilli, Anusha and Dalal, Ashwin (2013) GAPO syndrome with deafness. Clinical Dysmorphology, 22 (4). pp. 161-163. ISSN 0962-8827

Angalena, R. and Aggarwal, Shagun and Phadke, S.R. and Dalal, Ashwin (2012) 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. International Journal of Laboratory Hematology, 34 (4). e7-e9. ISSN 1751-5521