Article

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