Sathishkumar Ramaswamy

Dubai Science Park
Dubai, DU, United Arab Emirates

Last Updated: 09/26/2026

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Found 22 publications

Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.

Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.

Journal: Nature medicine
Published: February 26, 2026

Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness.

Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness.

Journal: BMC medicine
Published: December 14, 2025

Citywide premarital genomic screening in a Middle Eastern population.

Citywide premarital genomic screening in a Middle Eastern population.

Journal: Nature medicine
Published: October 09, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Journal: Genetics in medicine open
Published: December 04, 2024

Virtual Gene Panels Have a Superior Diagnostic Yield for Inherited Rare Diseases Relative to Static Panels.

Virtual Gene Panels Have a Superior Diagnostic Yield for Inherited Rare Diseases Relative to Static Panels.

Journal: Clinical chemistry
Published: July 06, 2024

A Dual-Mode Targeted Nanopore Sequencing Assay for Comprehensive SMN1 and SMN2 Variant Analysis.

A Dual-Mode Targeted Nanopore Sequencing Assay for Comprehensive SMN1 and SMN2 Variant Analysis.

Journal: The Journal of molecular diagnostics : JMD
Published: May 17, 2024

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.

Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.

Journal: Nature communications
Published: April 18, 2024

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.

IFIH1 loss of function predisposes to inflammatory and SARS-CoV-2-related infectious diseases.

Journal: Scandinavian journal of immunology
Published: December 05, 2023

Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series.

Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series.

Journal: Scientific reports
Published: August 17, 2023

The genomic landscape of rare disorders in the Middle East.

The genomic landscape of rare disorders in the Middle East.

Journal: Genome medicine
Published: September 02, 2022

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Journal: JAMA network open
Published: May 31, 2022

Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.

Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.

Journal: Human genetics
Published: March 16, 2022
Showing 1-12 of 22

Last Updated: 09/26/2026