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

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

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

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

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