Chakshu Chaudhry

Bengaluru, KA, India

Last Updated: 09/26/2026

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Found 24 publications

The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.

The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.

Journal: Clinical reviews in allergy & immunology

Published: June 05, 2025

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

Journal: European journal of human genetics : EJHG

Published: November 03, 2023

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.

Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency.

Journal: Journal of clinical immunology

Published: October 11, 2023

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Journal: Frontiers in genetics

Published: January 31, 2023

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene.

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene.

Journal: BMJ case reports

Published: January 18, 2023

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients.

TWIST1 Gene Variants Cause Craniosynostosis with Limb Abnormalities in Asian Patients.

Journal: Journal of pediatric genetics

Published: August 23, 2022

How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios.

How Experts Make a Call: Copy Number Variation Analysis in Unusual/Rare Case Scenarios.

Journal: Neurology India

Published: March 10, 2022

Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.

Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.

Journal: Journal of pediatric genetics

Published: February 18, 2022

Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.

Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.

Journal: Laboratory medicine

Published: November 18, 2021

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.

Journal: Journal of pediatric genetics

Published: August 17, 2021

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.

Journal: Case reports in genetics

Published: May 24, 2021

Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.

Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.

Journal: Journal of pediatric genetics

Published: April 12, 2021

Showing 1-12 of 24

Last Updated: 09/26/2026