Sasirekha Palaniswamy

Doha, DA, Qatar

Last Updated: 09/26/2026

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Found 8 publications

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Journal: BMC medical genomics

Published: July 08, 2025

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

Journal: International journal of molecular sciences

Published: March 28, 2025

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.

Journal: Metabolites

Published: February 04, 2024

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

Journal: BMC nephrology

Published: November 28, 2023

Burden of Mendelian disorders in a large Middle Eastern biobank.

Burden of Mendelian disorders in a large Middle Eastern biobank.

Journal: Genome medicine

Published: July 01, 2023

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

Journal: Genome medicine

Published: March 02, 2023

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

Journal: Genes

Published: February 12, 2023

Patterns and distribution of de novo mutations in multiplex Middle Eastern families.

Patterns and distribution of de novo mutations in multiplex Middle Eastern families.

Journal: Journal of human genetics

Published: February 01, 2022

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Last Updated: 09/26/2026