Maha El Naofal

Dubai, DU, United Arab Emirates

Last Updated: 09/26/2026

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Found 16 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

Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.

Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.

Journal: Communications medicine

Published: January 13, 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

Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.

Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.

Journal: American journal of medical genetics. Part A

Published: January 09, 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

Showing 1-12 of 16

Last Updated: 09/26/2026