| MAOA promoter polymorphism and attention deficit hyperactivity disorder (ADHD) in Indian children M Das, A Das Bhowmik, S Sinha, A Chattopadhyay, K Chaudhuri, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141 …, 2006 | 78 | 2006 |
| Role of gene–gene/gene–environment interaction in the etiology of eastern Indian ADHD probands M Das, AD Bhowmik, N Bhaduri, K Sarkar, P Ghosh, S Sinha, A Ray, ... Progress in Neuro-Psychopharmacology and Biological Psychiatry 35 (2), 577-587, 2011 | 50 | 2011 |
| Breakpoint mapping of a novel de novo translocation t (X; 20)(q11. 1; p13) by positional cloning and long read sequencing UR Dutta, SN Rao, VK Pidugu, VS Vineeth, A Bhattacherjee, AD Bhowmik, ... Genomics 111 (5), 1108-1114, 2019 | 34 | 2019 |
| Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis A Shukla, A Das Bhowmik, M Hebbar, KV Rajagopal, KM Girisha, N Gupta, ... Journal of human genetics 63 (1), 19-25, 2018 | 34 | 2018 |
| A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum S Aggarwal, AD Bhowmik, VL Ramprasad, S Murugan, A Dalal American Journal of Medical Genetics Part A 170 (7), 1868-1873, 2016 | 32 | 2016 |
| A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians N Kausthubham, A Shukla, N Gupta, GS Bhavani, S Kulshrestha, ... Human mutation 42 (4), e15-e61, 2021 | 30 | 2021 |
| Association of XRCC1, XRCC3, and NAT2 polymorphisms with the risk of oral submucous fibrosis among eastern Indian population S Mukherjee, AD Bhowmik, P Roychoudhury, K Mukhopadhyay, JG Ray, ... Journal of oral pathology & medicine 41 (4), 292-302, 2012 | 27 | 2012 |
| Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene SJ Patil, A Das Bhowmik, V Bhat, V Satidevi Vineeth, R Vasudevamurthy, ... American Journal of Medical Genetics Part A 176 (5), 1200-1206, 2018 | 24 | 2018 |
| Exome sequencing for perinatal phenotypes: the significance of deep phenotyping S Aggarwal, VS Vineeth, A Das Bhowmik, A Tandon, A Kulkarni, ... Prenatal Diagnosis 40 (2), 260-273, 2020 | 20 | 2020 |
| Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79 A Das Bhowmik, SJ Patil, DV Deshpande, V Bhat, A Dalal Journal of Human Genetics 63 (8), 927-933, 2018 | 19 | 2018 |
| Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome AD Bhowmik, A Dalal Gene 572 (2), 303-306, 2015 | 19 | 2015 |
| Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly A Kar, SR Phadke, A Das Bhowmik, A Dalal American Journal of Medical Genetics Part A 176 (1), 34-40, 2018 | 16 | 2018 |
| Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity AD Bhowmik, N Gupta, A Dalal, M Kabra Obesity Research & Clinical Practice 11 (2), 241-246, 2017 | 16 | 2017 |
| Significance of dopaminergic gene variants in the male biasness of ADHD A Das Bhowmik, K Sarkar, P Ghosh, M Das, N Bhaduri, K Sarkar, A Ray, ... Journal of Attention Disorders 21 (3), 200-208, 2017 | 16 | 2017 |
| Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus S Aggarwal, AD Bhowmik, A Tandon, A Dalal European Journal of Medical Genetics 61 (7), 399-402, 2018 | 14 | 2018 |
| Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism VS Vineeth, A Das Bhowmik, S Balakrishnan, A Dalal, S Aggarwal Journal of Human Genetics 64 (2), 183-189, 2019 | 13 | 2019 |
| Dopamine receptor D4 exon 3 variable number of tandem repeat polymorphism: distribution in eastern Indian population N Bhaduri, M Das, AB Das, K Mukhopadhyay Indian Journal of Human Genetics 13 (2), 54, 2007 | 13 | 2007 |
| Familial choreoathetosis due to novel heterozygous mutation in PDE10A DL Narayanan, D Deshpande, A Das Bhowmik, DR Varma, A Dalal American Journal of Medical Genetics Part A 176 (1), 146-150, 2018 | 12 | 2018 |
| Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing AD Bhowmik, A Dalal, D Matta, RM Kandadai, MA Kanikannan, ... Neuromuscular Disorders 26 (11), 809-814, 2016 | 12 | 2016 |
| Complex camptosynpolydactyly and mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders SR Phadke, A Kar, AD Bhowmik, A Dalal American Journal of Medical Genetics Part A 170 (6), 1622-1625, 2016 | 12 | 2016 |
