Publications by authors named "Fatma Rabea"

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Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, Khaleem F Hasham, Shruti Sinha, Fatma Rabea

Genet Med Open· September 2025

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FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Navin B Ramakrishna, Umar Bin Mohamad Sahari, Yoshikazu Johmura, Nur Ain Ali, Malak Alghamdi, Fatma Rabea

Am J Hum Genet· May 2025

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Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, Ikram Chekroun, Maha El Naofal

Nat Commun· March 2025

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Premarital genomic screening in Arab populations of the Middle East.
Ikram Chekroun, Fatma Rabea, Ruchi Jain, Alawi Alsheikh-Ali, Ahmad Abou Tayoun

Nat Med· February 2025

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Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.
Fatma Rabea, Maha El Naofal, Ikram Chekroun, Mona Khalaf, Nuha Al Zaabi

Commun Med (Lond)· June 2024

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The genomic landscape of rare disorders in the Middle East.
Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud, Fatima Sarfraz, Fatma Rabea

Genome Med· January 2023

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