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

Dutta, Usha and Rao, S.N. and Vijaya Kumar, P. and Vineeth, V.S. and Bhattacherjee, Amrita and Das Bhowmik, A. and Ramaswamy, S.K. and Singh, K.G. and Dalal, Ashwin (2019) Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics, 111 (5). pp. 1108-1114. ISSN 0888-7543

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

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

Das Bhowmik, A. and Karthik, T. and Uppin, M. and Sundaram, C. and Dalal, Ashwin (2018) Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy. Neurology India, 66 (6). pp. 1812-1814. ISSN 0028-3886

Vineeth, V.S. and Dutta, Usha and Karthik, T. and Das Bhowmik, A. and Dalal, Ashwin (2018) Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. Gene, 673. pp. 56-60. ISSN 0378-1119

Das Bhowmik, A. and Patil, S.J. and Deshpande, D.V. and Bhat, V. and Dalal, Ashwin (2018) Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. Journal of Human Genetics, 63 (8). pp. 927-933. ISSN 1434-5161

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

Patil, S.J. and Das Bhowmik, A. and Bhat, V. and Venugopal, S.V. and Rashmi, V. and Dalal, Ashwin (2018) Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American Journal of Medical Genetics Part A, 176 (5). pp. 1200-1206. 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

Dhanya Lakshmi, N. and Deshpande, D. and Das Bhowmik, A. and Varma, D.R. and Dalal, Ashwin (2018) Familial choreoathetosis due to novel heterozygous mutation in PDE10A. American Journal of Medical Genetics Part A, 176 (1). pp. 146-150. ISSN 1552-4825

Shukla, A. and Das Bhowmik, A. and Hebbar, Malavika and Rajagopal, K.V. and Girisha, K.M. and Gupta, N. and Dalal, Ashwin (2018) Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Journal of Human Genetics, 63 (1). pp. 19-25. ISSN 1434-5161

Das Bhowmik, A. and Vijayalakshmi, S.R. and Dalal, Ashwin (2018) Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation. American Journal of Medical Genetics Part A, 176 (1). pp. 219-224. ISSN 1552-4825

Kar, Anjana and Phadke, S.R. and Das Bhowmik, A. and Dalal, Ashwin (2018) Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. American Journal of Medical Genetics Part A, 176 (1). pp. 34-40. ISSN 1552-4825

Das Bhowmik, A. and Gupta, N. and Dalal, Ashwin and Kabra, M. (2017) Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obesity Research & Clinical Practice, 11 (2). pp. 241-246. ISSN 1871-403X

Das Bhowmik, A. and Sarkar, Kanyakumarika and Ghosh, P. and Das, M. and Bhaduri, N. and Sarkar, Keka and Ray, A. and Sinha, S. and Mukhopadhyay, Kanchan (2017) Significance of Dopaminergic Gene Variants in the Male Biasness of ADHD. Journal of Attention Disorders, 21 (3). pp. 200-208. ISSN 1087-0547

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

Hebbar, Malavika and Harsha Prasada, L. and Das Bhowmik, A. and Trujillano, D. and Shukla, A. and Chakraborti, Shrijeet and Kandaswamy, K.K. and Rolfs, A. and Kamath, N. and Dalal, Ashwin and Bielas, S. and Girisha, K.M. (2016) Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. American Journal of Medical Genetics Part A, 170 (9). pp. 2486-2489. 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

Phadke, S.R. and Kar, A. and Das Bhowmik, A. and Dalal, Ashwin (2016) Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. American Journal of Medical Genetics Part A, 170 (6). pp. 1622-1625. 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

Das Bhowmik, A. and Dalal, Ashwin (2015) Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome. Gene, 572 (2). pp. 303-306. ISSN 0378-1119

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

Dalal, Ashwin and Das Bhowmik, A. and Agarwal, Divya and Phadke, S.R. (2015) Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. Indian Journal of Medical Research, 142 (2). pp. 220-224. ISSN 0971-5916

Das Bhowmik, A. and Rangaswamaiah, S. and Srinivas, G. and Dalal, Ashwin (2015) Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR. European journal of Medical Genetics, 58 (3). pp. 160-167. ISSN 1878-0849