Explanipedia

Correction: Validation of a genome-wide polygenic score for body mass index in South Asians Open

Ramesh Menon, Akshay Dedaniya, Aakanksha Pant, Rammurthy Anjanappa, Praveena L. Samson , et al. · 2025

Validation of a genome-wide polygenic score for body mass index in South Asians Open

Ramesh Menon, Nikhat Khan, Sandeep Charugulla, Akshi Bassi, Pooja Dangare , et al. · 2025

Obesity is a complex disorder, manifested by the interaction of inherited and environmental factors and modulated by a person’s lifestyle habits. India has witnessed more than a two-fold increase in the number of overweight adults in the l…

Association of Bassoon (BSN) Gene Mutations with Gait and Motor Impairments in Parkinson's Disease Open

Prashanth Lingappa Kukkle, Ahamed P Kaladiyil, Thenral S. Geetha, Ramesh Menon, Rukmini Mridula Kandadai , et al. · 2025

Introduction Parkinson's Disease (PD) features debilitating motor symptoms, particularly gait and balance impairments inadequately managed by current therapies. Bassoon (BSN), a presynaptic active zone organizer, has been implicated in var…

Genome-Wide Association Study Identifies a Potential Genomic Risk Locus at Chr11q13.1 for Acute Kidney Injury in Patients Undergoing Off-Pump Coronary Artery Bypass Grafting Open

Muralidhar Kanchi, Varun Shetty, M.A. Kuijlen Jos, Avinash Arvind Rasalkar, Gyaneshwer Chaubey , et al. · 2025

One of the most frequent perioperative complications in heart surgery is acute kidney damage (AKI). We conducted a genome-wide association study (GWAS) to investigate genetic predispositions for AKI and the impact of genome-wide polygenic …

Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort Open

Harsh Sheth, Jyoti Sadhwani, Thenral SG, Vedam L. Ramprasad, D. Timothy Bishop · 2024

Lynch syndrome (LS) is an autosomal dominant hereditary cancer predisposition syndrome whereby the lifetime risk of developing gastrointestinal and genitourinary cancers rises by to over 50%. It is caused by heterozygous variants in the DN…

Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study Open

Shweta Mahalingam, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar , et al. · 2024

Background: Identifying the cause of recurrent pregnancy loss (RPL) helps in the direct management of future pregnancies. In 3%-4% of cases, a chromosomal structural rearrangement is identified in the couple. Pre-implantation genetic testi…

Validation of a Genome-Wide Polygenic Score for Obesity in South Asians Open

Ramesh Menon, Nikhat Khan, Sandeep Charugulla, Akshi Bassi, Pooja Dangre , et al. · 2024

Obesity is a complex disorder, manifested by the interaction of inherited and environmental factors and modulated by a person’s lifestyle habits. India has witnessed more than two-fold increase in the number of overweight adults in the las…

Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic Open

Raja Pramanik, Sindhura Chitikela, S. V. S. Deo, Ajay Gogia, Atul Batra , et al. · 2024

We report a 41% P/LP variant rate in our selected cohort of breast cancer patients, with variants in BRCA constituting 83% and non-BRCA gene variants constituting 17%.

Antecedent Neonatal Hypoglycaemic Brain Injury is a Common Preventable Cause of Early Childhood Epilepsy in Indian Children: Results from a Prospective Study on Aetiologies and Outcomes Open

Chitra Gupta, Bhuvandeep Narang, Thenral SJ, Rakhi Sharma, Sagnik Chatterjee , et al. · 2024

Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy Open

Shamita Sanga, Sudipta Chakraborty, Mainak Bardhan, Kiran Polavarapu, Veeramani Preethish Kumar , et al. · 2023

Detection of 22q11.2 deletion syndrome by single-nucleotide polymorphism based non-invasive prenatal test Open

Angela Devanboo, Dhriti Chendil Nathan, Shweta Mahalingam, Vishalakshi Apparaya Prabhu, Hema Purandarey , et al. · 2023

Non-invasive prenatal test (NIPT) has become a popular screening test worldwide for screening common trisomies. In addition, the test can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. In recent years, the scope of NIPT…

The genetic drivers of juvenile, young, and early-onset Parkinson’s Disease in India Open

Shan V. Andrews, Prashanth Lingappa Kukkle, Ramesh Menon, Thenral S. Geetha, Vinay Goyal , et al. · 2023

Background Recent studies have advanced our understanding of the genetic drivers of Parkinson’s Disease (PD). Rare variants in more than 20 genes are considered causal for PD, and the latest PD GWAS study identified 90 independent risk loc…

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity Open

Jeffrey D. Wall, J. Fah Sathirapongsasuti, Ravi Gupta, Asif Rasheed, Venkatesan Radha , et al. · 2023

Identification of a shared, common haplotype segregating with an SGCB c.544T>G mutation in Indian patients affected with sarcoglycanopathy Open

Shamita Sanga, Sudipta Chakraborty, Mainak Bardhan, Kiran Polavarapu, Veeramani Preethish Kumar , et al. · 2023

Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations in SGCB gene encoding beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype co-segregating i…

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene Open

Veena Halale Manjunath, S. G. Thenral, B. R. Lakshmi, Atchayaram Nalini, Akshi Bassi , et al. · 2023

The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is chara…

Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis Open

Gaurav Joshi, Nancy Beryl Janet Arthur, Thenral S. Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak , et al. · 2023

Background Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand crosslink (ICL) repair pathway. Accurate laboratory investigat…

Multicentric study for estimation of prevalence of microsatellite instability and Lynch syndrome amongst colorectal cancer patients in India Open

Harsh Sheth, Abhinav Jain, Mithun Vinod Shah, Pankaj Shah, Suresh G. Advani , et al. · 2023

Purpose Colorectal cancer (CRC) is the fifth most common cancer in India, however, there is a paucity of systematically collected data related to its molecular epidemiology, specifically related to tumour microsatellite instability (MSI) a…

True Fetal Trisomy 22 Detected Using Genome-Wide Noninvasive Prenatal Testing Open

Shweta Mahalingam, Angela Devanboo, Avinash Pradhan, Ashwini Suravaparu, T. Sai Kiranmai , et al. · 2023

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes—a prospective observational study Open

Pooja Agarwala, Bhuvandeep Narang, Thenral S. Geetha, Nilesh Kurwale, Praveena L. Samson , et al. · 2023

In this study, we have evaluated the underlying aetiologies, yield of genetic testing and long-term outcomes in patients with early-infantile developmental and epileptic encephalopathies. We have prospectively studied patients with seizure…

Molecular epidemiology of SARS-CoV-2 in healthcare workers and identification of viral genomic correlates of transmissibility and vaccine break through infection: A retrospective observational study from a cancer hospital in eastern India Open

Sanjay Bhattacharya, S. N. Chatterji, Mammen Chandy, Aseem Mahajan, Gaurav Goel , et al. · 2022

Oculogyric Crisis Phenotype of Levodopa‐Induced Ocular Dyskinesia Open

Diana A. Olszewska, Rajesh Shetty, Thenral S. Geetha, Vedam L. Ramprasad, Anthony E. Lang , et al. · 2022

Ocular dyskinesia (OD) is an uncommon form of the levodopa induced dyskinesia (LIOD) characterized by short-lasting horizontal or upward conjugate gaze deviation. More sustained deviations resembling oculogyric crises (OGC) are distinctly …

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene Open

Sunita Bijarnia‐Mahay, Puneeth H. Somashekar, Parneet Kaur, Samarth Kulshrestha, Vedam L. Ramprasad , et al. · 2021

Retinoblastoma genetics screening and clinical management Open

Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan , et al. · 2021

Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods Fifty children with RB underwent c…

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing Open

Arun Shastry, Sankaramoorthy Aravind, Meeta Sunil, Keerthi Ramesh, Berty Ashley , et al. · 2021

Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in…

Chorea-acanthocytosis Open

Muhammad Abbas, S. G. Thenral, Vedam L. Ramprasad, Ruth H. Walker, Prashanth Lingappa Kukkle · 2021

Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson’s Disease Open

Prashanth Lingappa Kukkle, Vinay Goyal, Thenral S. Geetha, Rukmini Mridula Kandadai, Hrishikesh Kumar , et al. · 2021

Objective: To determine the demographic pattern of juvenile-onset parkinsonism (JP, <20 years), young-onset (YOPD, 20–40 years), and early onset (EOPD, 40–50 years) Parkinson’s disease (PD) in India. Materials and Methods: We conducted a 2…

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India Open

Snehal Shabrish, Madhura Kelkar, Reetika Malik Yadav, Umair Ahmed Bargir, Maya Gupta , et al. · 2021

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when a…

Retinoblastoma Mutational Screening in India: Opportunities and Challenges in Clinical Decisions and Genetic Counselling Open

Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan , et al. · 2021

Background: India accounts for 20% of the global retinoblastoma (RB) burden. Existing data is sparse on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. Methods: Fifty children with RB underwent co…

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review Open

Kiran Polavarapu, Mainak Bardhan, Ram Murthy Anjanappa, Seena Vengalil, Veeramani Preethish‐Kumar , et al. · 2021

This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the f…

Molecular Epidemiology of SARS-CoV-2 in Healthcare Workers and Identification of Viral Genomic Correlates of Transmissibility and Vaccine Break Through Infection: A Retrospective Observational Study From a Cancer Hospital in Eastern India Open

Sanjay Bhattacharya, S. N. Chatterji, Mammen Chandy, Aseem Mahajan, Gaurav Goel , et al. · 2021

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