Gandham S. Bhavani

Manipala, KA, India

Last Updated: 09/26/2026

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Found 44 publications

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

ARSK-Related Mucopolysaccharidosis Type 10.

ARSK-Related Mucopolysaccharidosis Type 10.

Journal: American journal of medical genetics. Part A

Published: June 16, 2025

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome.

Journal: American journal of medical genetics. Part A

Published: January 08, 2025

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Journal: European journal of human genetics : EJHG

Published: July 01, 2024

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Journal: Clinical dysmorphology

Published: June 10, 2024

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.

Journal: European journal of human genetics : EJHG

Published: April 07, 2024

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.

Journal: American journal of medical genetics. Part A

Published: January 16, 2024

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.

PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.

Journal: American journal of medical genetics. Part A

Published: December 06, 2023

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Journal: Clinical genetics

Published: August 15, 2023

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Journal: European journal of human genetics : EJHG

Published: June 29, 2023

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

Journal: American journal of medical genetics. Part A

Published: May 29, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026