Publications by authors named "Mahmoud Fassad"

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Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.
Mahmoud R Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J Collier, Charlotte V Y Knowles

Clin Genet· January 2026

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Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.
Maryke Schoonen, Mahmoud Fassad, Krutik Patel, Michelle Bisschoff, Armand Vorster

Eur J Hum Genet· April 2025

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HYDIN variants cause primary ciliary dyskinesia in the Finnish population.
Thomas Burgoyne, Mahmoud R Fassad, Rüdiger Schultz, Varpu Elenius, Jacqueline S Y Lim

Pediatr Pulmonol· December 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Mahmoud R Fassad

Science· April 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Mahmoud R Fassad

Nat Genet· March 2024

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Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C Vorster, Mahmoud R Fassad

Orphanet J Rare Dis· January 2024

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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Mahmoud R Fassad

Brain· December 2023

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Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Mahmoud R Fassad, Nisreen Rumman, Katrin Junger, Mitali P Patel, James Thompson

Hum Mol Genet· October 2023

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Axonemal structures reveal mechanoregulatory and disease mechanisms.
Travis Walton, Miao Gui, Simona Velkova, Mahmoud R Fassad, Robert A Hirst

Nature· June 2023

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson

EMBO Mol Med· May 2023

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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Nisreen Rumman, Mahmoud R Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman

ERJ Open Res· March 2023

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mutation causing primary ciliary dyskinesia in Finland.
Rüdiger Schultz, Varpu Elenius, Mahmoud R Fassad, Grace Freke, Andrew Rogers

Front Genet· September 2022

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Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.
Dani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, Colin R Butler, Andrew Rutman, Mahmoud R Fassad

Eur Respir J· October 2021

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Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Amelia Shoemark, Bruna Rubbo, Marie Legendre, Mahmoud R Fassad, Eric G Haarman

Eur Respir J· August 2021

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Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.
Evie Alexandra Robson, Luke Dixon, Liam Causon, William Dawes, Massimo Benenati, Mahmoud Fassad

Neurol Genet· August 2020

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Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Mahmoud R Fassad, Mitali P Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward

J Med Genet· May 2020

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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Mahmoud R Fassad, Walaa I Shoman, Heba Morsy, Mitali P Patel, Nesrine Radwan

Clin Genet· March 2020

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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Sunayna Best, Amelia Shoemark, Bruna Rubbo, Mitali P Patel, Mahmoud R Fassad

Thorax· February 2019

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Expanding the phenome and variome of skeletal dysplasia.
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Mahmoud R Fassad

Genet Med· December 2018

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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Mahmoud R Fassad, Amelia Shoemark, Marie Legendre, Robert A Hirst, France Koll

Am J Hum Genet· December 2018

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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.
Hannah Farley, Bruna Rubbo, Zuzanna Bukowy-Bieryllo, Mahmoud Fassad, Myrofora Goutaki

BMC Proc· December 2018

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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel

Am J Hum Genet· May 2018

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High prevalence of p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Mahmoud R Fassad

Thorax· February 2018

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Mahmoud R Fassad

Nat Commun· February 2017

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Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss.
Mahmoud R Fassad, Lubna M Desouky, Samir Asal, Ebtesam M Abdalla

Int J Mol Epidemiol Genet· March 2015

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