Author: Aparajit

January 20, 2026

Multi-gene testing in neurological disorders showed an improved diagnostic yield

Genetics

Background: Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge. Methods: We sequenced 1012 unrelated patients from India with suspected…

January 20, 2026

Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

Genetics

Autosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair indels, or duplication mutations. In this report, we describe the first Indian family with cutis laxa as a result of a novel 19 base pair homozygous deletion leading to premature termination of short isoform LTBP-4S. Download this published paper below:

April 28, 2020

Understanding CSR from the Organizational Theory Perspectives

CSRManagement

Does the concept of CSR make organizations more responsible in a tangible way, or does it mostly serve to manage impressions or even greenwashing? This paper examines Corporate Social Responsibility through the key types of organization theory from the following perspectives: rationalist, pragmatist, co-constitutive theories, and critical management perspective. The primary aim of this paper is to highlight the mechanisms in which CSR can make organizations tangibly more responsible when viewed from each of this…