Publications by authors named "Vineeth Vs"

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SERPINA11 related novel serpinopathy - A perinatal lethal disorder.
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S Padwal, Sameer Ahmed Bhat, Arpita Singh

Clin Genet· September 2024

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Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
Priya Ranganath, Vineeth Vs, Ikromi Rungsung, Ashwin Dalal, Shagun Aggarwal

Fetal Pediatr Pathol· February 2023

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Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Gayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, Lekshmi Nair, Ashwin Dalal

Am J Med Genet A· July 2022

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Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Neelam Saini, Vijaya Sree Venkatapuram, Venugopal Satidevi Vineeth, Aditya Kulkarni, Ashwani Tandon

Prenat Diagn· June 2022

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Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
Vijaya Sree Venkatapuram, Shagun Aggarwal, Aditya Deepak Kulkarni, Venugopal Satidevi Vineeth, Ashwin Bhikaji Dalal

Am J Med Genet A· April 2022

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Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.
Priya Ranganath, Prajnya Ranganath, V S Vineeth, Ashwin Dalal, Siddaramappa J Patil

Clin Dysmorphol· October 2021

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Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
Shagun Aggarwal, Venugopal Satidevi Vineeth, Aneek Das Bhowmik, Ashwani Tandon, Aditya Kulkarni

Prenat Diagn· January 2020

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Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
Venugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, Ashwin Dalal, Shagun Aggarwal

J Hum Genet· February 2019

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Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing.
R Mahajan, S K Vellarikkal, S Handa, A Verma, R Jayarajan

J Eur Acad Dermatol Venereol· December 2018

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Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Venugopal S Vineeth, Usha R Dutta, Karthik Tallapaka, Aneek Das Bhowmik, Ashwin Dalal

Gene· October 2018

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Evaluation of in vitro sperm nuclear chromatin decondensation among different subgroups of infertile males in Mysore, India.
Gopalappa Sreenivasa, Papanna Kavitha, Venugopal Satidevi Vineeth, Sharath Kumar Channappa, Suttur Srikanta Naik Malini

J Res Med Sci· May 2012

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Evaluation of acrosome intactness status in male infertility in Mysore, South India.
G Sreenivasa, Vs Vineeth, P Kavitha, Suttur S Malini

Int J Appl Basic Med Res· January 2012

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