Rahul C. Bhoyar

Mathura Road
New Delhi, DL 110025, India

Last Updated: 09/26/2026

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Found 53 publications

Subtle Clinical Clues for Early Diagnosis of Lethal ORAI1 Deficiency in Infants.

Subtle Clinical Clues for Early Diagnosis of Lethal ORAI1 Deficiency in Infants.

Journal: Indian journal of pediatrics

Published: November 04, 2025

Opportunistic analysis of clinically actionable DPYD gene variants in a germline testing cohort in India.

Opportunistic analysis of clinically actionable DPYD gene variants in a germline testing cohort in India.

Journal: Pharmacogenomics

Published: August 14, 2025

Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.

Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.

Journal: Journal of genetics

Published: July 16, 2025

Population-Wide Differences in Allele Frequencies of WNT9B E152K and Q47R Genetic Variants Suggest Reassessment of Prostate Cancer Risk.

Population-Wide Differences in Allele Frequencies of WNT9B E152K and Q47R Genetic Variants Suggest Reassessment of Prostate Cancer Risk.

Journal: JCO precision oncology

Published: June 04, 2025

Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.

Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.

Journal: Cancer causes & control : CCC

Published: November 28, 2024

Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies.

Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies.

Journal: European journal of immunology

Published: November 21, 2024

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Journal: Movement disorders clinical practice

Published: June 04, 2024

Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Journal: Endocrine

Published: April 29, 2024

A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening.

A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening.

Journal: The journal of applied laboratory medicine

Published: March 21, 2024

The genomic landscape of CYP2D6 variation in the Indian population.

The genomic landscape of CYP2D6 variation in the Indian population.

Journal: Pharmacogenomics

Published: March 01, 2024

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.

Journal: Journal of human genetics

Published: October 24, 2023

Homozygous familial hypercholesterolemia with xanthomas and a recurrent mutation.

Homozygous familial hypercholesterolemia with xanthomas and a recurrent mutation.

Journal: Indian journal of dermatology, venereology and leprology

Published: September 17, 2023

Showing 1-12 of 53

Last Updated: 09/26/2026