Sakthivel Murugan

Incidental Identification of Molar Pregnancy During Maternal Cell Contamination Testing

Smitha Chandrakeerthy, Shweta Mahalingam, Priyadharshini Govindaraj, Pushpanjali Singh et autres

Abstract Maternal cell contamination (MCC) testing ensures accuracy in prenatal genetic diagnosis by comparing maternal and fetal short tandem repeat (STR) profiles. Occasionally, MCC patterns reveal rare abnormalities such as triploidy and molar pregnancy. We summarize cases where homozygous paternal-only STR alleles …

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

Ramesh Menon, Nikhat Khan, Sandeep Charugulla, Akshi Bassi et autres

Incorrect data availability statement The Data Availability statement was erroneously given as "The unpublished data used in this study has been submitted in the EBI-ENA portal with the accession PRJEB96171". The correct Data Availability statement is "The original contributions presented in the …

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Abstract 4368624: Genetic Testing Outcomes in Hypertrophic and Dilated Cardiomyopathy: A Five-Year Retrospective Review

Thenral S. Geetha, Aditi Singhvi, Sandhya C. Nair, Sakthivel Murugan et autres

Cardiomyopathies (CM) are rare, inherited heart diseases. Major types include dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is the most common. Genetic diagnostic testing can identify disease genes associated with inherited cardiomyopathies, which are crucial for diagnosis, risk stratification, …

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

Ramesh Menon, Nikhat Khan, Sandeep Charugulla, Akshi Bassi et autres

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 last 30 years. The polygenic …

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Prospective study to analyze the yield and clinical impact of trio exome sequencing in 137 Indian children with autism spectrum disorder

Shruti Bajaj, Shreya Gandhi, Thenral S. Geetha, Anita Chitre et autres

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Neonatal hypoglycaemic brain injury, a common cause of early‐childhood epilepsy in India: A prospective longitudinal study on aetiologies and outcomes

Chitra Gupta, Bhuvandeep Narang, S. G. Thenral, Rakhi Sharma et autres

AIM: To evaluate the aetiologies and long-term seizure outcomes in early childhood epilepsy in a low- to middle-income country (India). METHOD: This prospective descriptive study enrolled 231 children with epilepsy onset before age 5 years, over a 12-month period. A comprehensive neuroradiological …

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KINSSHIP Syndrome without Mesomelia: A Case Report and Review of Literature

Meenakshi Lallar, S Harikrishnan, Sakthivel Murugan, Sandhya V. G. Nair

KINSSHIP syndrome is a recently characterized disorder caused by pathogenic variants in the AFF3 gene, with around 22 reported worldwide. The syndrome presents with a highly recognizable phenotype, including horseshoe kidney, Nievergelt/Savarirayan-type mesomelic dysplasia, seizures, hypertrichosis, intellectual disability, and pulmonary involvement. We …

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

Ramesh Menon, Nikhat Khan, Sandeep Charugulla, Akshi Bassi et autres

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Antecedent neonatal hypoglycaemic brain injury, the most common cause of early childhood epilepsy in Indian children

Chitra Gupta, Bhuvandeep Narang, Thernal SJ, Rakhi Sharma et autres

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Antecedent Neonatal Hypoglycaemic Brain Injury, commonest cause of Early-Childhood Epilepsy in Indian Children

Chitra Gupta, Bhuvandeep Narang, Thernal SJ, Rakhi Sharma et autres

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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

Chitra Gupta, Bhuvandeep Narang, Thenral SJ, Rakhi Sharma et autres

Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia

Payal Kamdar, Thenral S. Geetha, Thomas Palocaren, Madhavi Kandagaddala et autres

This graphic abstract combines pedigree, dysmorphology features, radiographs, and the PRKG2 protein domain, specifically the CNB-A regulatory domain, which harbors a mutation resulting in premature protein termination.

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