Aneek Das Bhowmik
Overview
Explore the profile of Aneek Das Bhowmik including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
254
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Recent Articles
1.
Pal P, Devireddy S, Bhat S, George J, Kakkar S, Das Bhowmik A, et al.
Clin Dysmorphol
. 2025 Feb;
PMID: 39945639
No abstract available.
2.
Balakrishnan S, Rachamadugu M, Das Bhowmik A, Bharadwaj K
Clin Dysmorphol
. 2024 May;
33(3):110-113.
PMID: 38818817
No abstract available.
3.
Saini N, Das Bhowmik A, Yareeda S, Venkatapuram V, Afshan Jabeen S, Tallapaka K, et al.
Am J Med Genet A
. 2022 Oct;
191(1):238-248.
PMID: 36271814
Hedgehog acyltransferase gene (HHAT)-associated Nivelon-Nivelon-Mabile syndrome (NNMS) is a rare genetic disorder of multiple system involvement with microcephaly, central nervous system malformations, skeletal dysplasia, and 46,XY sex reversal. Other variable...
4.
Kausthubham N, Shukla A, Gupta N, Bhavani G, Kulshrestha S, Das Bhowmik A, et al.
Hum Mutat
. 2021 Jan;
42(4):e15-e61.
PMID: 33502066
Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family...
5.
Aggarwal S, Vineeth V, Das Bhowmik A, Tandon A, Kulkarni A, Narayanan D, et al.
Prenat Diagn
. 2019 Nov;
40(2):260-273.
PMID: 31742715
Objective: To ascertain the performance of exome sequencing (ES) technology for determining the etiological basis of abnormal perinatal phenotypes and to study the impact of comprehensive phenotyping on variant prioritization....
6.
Tallapaka K, Aggarwal S, Bhattacherjee A, Das Bhowmik A, Dalal A
Mol Syndromol
. 2019 Jun;
10(3):177-182.
PMID: 31191208
A patient referred for prenatal diagnostics, after first-trimester ultrasound due to a previous child with Leber congenital amaurosis, was suggestive of a Meckel syndrome-like phenotype. Fetal autopsy confirmed the multiple...
7.
Das Bhowmik A, Tallapaka K, Uppin M, Sundaram C, Dala A
Neurol India
. 2018 Dec;
66(6):1812-1814.
PMID: 30504588
No abstract available.
8.
Vineeth V, Das Bhowmik A, Balakrishnan S, Dalal A, Aggarwal S
J Hum Genet
. 2018 Nov;
64(2):183-189.
PMID: 30459466
We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to...
9.
Das Bhowmik A, Dalal A, Tandon A, Aggarwal S
J Obstet Gynaecol Res
. 2018 Jul;
44(12):2181-2185.
PMID: 30058238
We report a 32-week fetus conceived of consanguineous parentage which presented with severe early onset oligohydramnios and history of a similarly affected sibling in previous pregnancy. Ultrasonography and autopsy were...
10.
Dutta U, Rao S, Pidugu V, V S V, Bhattacherjee A, Das Bhowmik A, et al.
Genomics
. 2018 Jul;
111(5):1108-1114.
PMID: 30006036
Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is to characterize a balanced reciprocal translocation in...