Purvi Majethia

Manipala, KA, India

Last Updated: 09/26/2026

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Found 24 publications

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Journal: European journal of human genetics : EJHG

Published: February 21, 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: 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

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Journal: Journal of inherited metabolic disease

Published: December 05, 2025

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI.

Journal: American journal of medical genetics. Part A

Published: September 09, 2025

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Journal: European journal of neurology

Published: August 26, 2024

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.

Journal: Clinical dysmorphology

Published: August 14, 2024

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.

Journal: American journal of medical genetics. Part A

Published: July 06, 2024

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology

Published: March 14, 2024

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Journal: Clinical genetics

Published: November 13, 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

Showing 1-12 of 24

Last Updated: 09/26/2026