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International Journal of Molecular Epidemiology and Genetics|March 11, 2015
Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing lossMahmoud R Fassad, Lubna M Desouky, Samir Asal, et al.
Clinical Genetics|October 26, 2019
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesiaMahmoud R Fassad, Walaa I Shoman, Heba Morsy, et al.
Human Molecular Genetics|August 9, 2023
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutationsMahmoud R Fassad, Nisreen Rumman, Katrin Junger, et al.
Nature|May 31, 2023
Axonemal structures reveal mechanoregulatory and disease mechanismsTravis Walton, Miao Gui, Simona Velkova, et al.
Pediatric Pulmonology|September 18, 2024
HYDIN variants cause primary ciliary dyskinesia in the Finnish populationThomas Burgoyne, Mahmoud R Fassad, Rüdiger Schultz, et al.
Frontiers in Genetics|October 17, 2022
<i>CFAP300</i> mutation causing primary ciliary dyskinesia in FinlandRüdiger Schultz, Varpu Elenius, Mahmoud R Fassad, et al.
NPJ Genomic Medicine|May 19, 2026
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinismMahmoud R Fassad, Pradeep C Vasudevan, Julian Barwell, et al.
Orphanet Journal of Rare Diseases|January 14, 2024
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD studyMichelle Bisschoff, Izelle Smuts, Marli Dercksen, et al.
American Journal of Human Genetics|May 5, 2018
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary DyskinesiaMahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, et al.
Clinical Genetics|June 30, 2025
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial DiseaseMahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, et al.
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