Shaista Parveen

Mall Road
Delhi, DL 110007, India

Last Updated: 09/26/2026

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Found 19 publications

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.

Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.

Journal: Neurogenetics

Published: June 02, 2023

Mutational dynamics across VOCs in International travellers and Community transmission underscores importance of Spike-ACE2 interaction.

Mutational dynamics across VOCs in International travellers and Community transmission underscores importance of Spike-ACE2 interaction.

Journal: Microbiological research

Published: April 25, 2022

LncRNAs harbouring regulatory motifs within repeat elements modulate immune response towards COVID-19 disease severity and clinical outcomes.

LncRNAs harbouring regulatory motifs within repeat elements modulate immune response towards COVID-19 disease severity and clinical outcomes.

Journal: Clinical and translational medicine

Published: March 09, 2022

Human-host transcriptomic analysis reveals unique early innate immune responses in different sub-phenotypes of COVID-19.

Human-host transcriptomic analysis reveals unique early innate immune responses in different sub-phenotypes of COVID-19.

Journal: Clinical and translational medicine

Published: January 25, 2022

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.

Journal: Advanced genetics (Hoboken, N.J.)

Published: December 22, 2021

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: November 17, 2021

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

Journal: Neurogenetics

Published: June 04, 2021

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

Journal: Indian pediatrics

Published: May 13, 2021

Cerebellar Ataxia in Adults with SQSTM1-Associated Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum of Disorders.

Cerebellar Ataxia in Adults with SQSTM1-Associated Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum of Disorders.

Journal: Movement disorders clinical practice

Published: January 09, 2021

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

Journal: Journal of Huntington's disease

Published: July 18, 2020

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

Journal: Human mutation

Published: April 03, 2020

An Indian child with Coats plus syndrome due to mutations in STN1.

An Indian child with Coats plus syndrome due to mutations in STN1.

Journal: American journal of medical genetics. Part A

Published: February 19, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026