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Aneek Das Bhowmik

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 11

Top Venues

American journal of medical genetics. Part A

Journal of human genetics

The journal of obstetrics and gynaecology research

Prenatal diagnosis

Centre for Cellular and Molecular Biology CSIR

Manovikas Kendra Rehabilitation and Research Institute for the Handicapped (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Centre for Cellular and Molecular Biology CSIR Apr 3o 2019

India

Senior Analyst :: Association for Promoting Innovation & Research by Entrepreneurs (ASPIRE)

Education History

Manovikas Kendra Rehabilitation and Research Institute for the Handicapped Aug 9o 2004 - May 4o 2011

India

PHD :: Biomedical Research and Diagnostic Centre

Publications

Neelam Saini, Aneek Das Bhowmik, Sireesha Yareeda, Vijayasree Venkatapuram, Shaik Afshan Jabeen, Karthik Tallapaka, Ashwin B Dalal, Shagun Aggarwal
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome. American journal of medical genetics. Part A (2022)
Shagun Aggarwal, Venugopal Satidevi Vineeth, Aneek Das Bhowmik, Ashwani Tandon, Aditya Kulkarni, Dhanya Lakshmi Narayanan, Amrita Bhattacherjee, Ashwin Dalal
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping. Prenatal diagnosis 40 (2) (2019)
Siddaramappa Jagdish Patil, Aneek Das Bhowmik, Venkatraman Bhat, Venugopal Satidevi Vineeth, Rashmi Vasudevamurthy, Ashwin B Dalal
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American journal of medical genetics. Part A 176 (5) (2019)
Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande, Venkatraman Bhat, Ashwin Dalal
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. Journal of human genetics 63 (8) (2018)
Venugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, Ashwin Dalal, Shagun Aggarwal
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. Journal of human genetics 64 (2) (2018)
Aneek Das Bhowmik, Ashwin Dalal, Ashwani Tandon, Shagun Aggarwal
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. The journal of obstetrics and gynaecology research 44 (12) (2018)
Anjana Kar, Shubha Rao Phadke, Aneek Das Bhowmik, Ashwin B Dalal
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) (2017)
Dhanya Lakshmi Narayanan, Dipti Deshpande, Aneek Das Bhowmik, Dandu R Varma, Ashwin B Dalal
Familial choreoathetosis due to novel heterozygous mutation in PDE10A. American journal of medical genetics. Part A 176 (1) (2017)
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Ashwin Dalal
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) (2017)
Aneek Das Bhowmik, Vijayalakshmi Salem Ramakumaran, Ashwin B Dalal
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) (2017)
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta Mohan Girisha, Neerja Gupta, Ashwin Dalal
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) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Aneek Das Bhowmik