| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ... Nature communications 8 (1), 14279, 2017 | 144 | 2017 |
| Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P Le Borgne, ... The American Journal of Human Genetics 103 (6), 984-994, 2018 | 105 | 2018 |
| High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward, J Scully, ... Thorax 73 (2), 157-166, 2018 | 71 | 2018 |
| Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia S Best, A Shoemark, B Rubbo, MP Patel, MR Fassad, M Dixon, ... Thorax 74 (2), 203-205, 2019 | 62 | 2019 |
| Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort MR Fassad, MP Patel, A Shoemark, T Cullup, J Hayward, M Dixon, ... Journal of Medical Genetics 57 (5), 322-330, 2020 | 59 | 2020 |
| Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia A Shoemark, B Rubbo, M Legendre, MR Fassad, EG Haarman, S Best, ... European Respiratory Journal 58 (2), 2021 | 58 | 2021 |
| Expanding the phenome and variome of skeletal dysplasia S Maddirevula, S Alsahli, L Alhabeeb, N Patel, F Alzahrani, ... Genetics in Medicine 20 (12), 1609-1616, 2018 | 57 | 2018 |
| C11orf70 mutations disrupting the intraflagellar transport-dependent assembly of multiple axonemal dyneins cause primary ciliary dyskinesia MR Fassad, A Shoemark, P Le Borgne, F Koll, M Patel, M Dixon, ... The American Journal of Human Genetics 102 (5), 956-972, 2018 | 57 | 2018 |
| Axonemal structures reveal mechanoregulatory and disease mechanisms T Walton, M Gui, S Velkova, MR Fassad, RA Hirst, E Haarman, ... Nature 618 (7965), 625-633, 2023 | 34 | 2023 |
| Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation EA Robson, L Dixon, L Causon, W Dawes, M Benenati, M Fassad, ... Neurology: Genetics 6 (4), e482, 2020 | 28 | 2020 |
| Primary ciliary dyskinesia due to microtubular defects is associated with worse lung clearance index S Irving, M Dixon, MR Fassad, E Frost, J Hayward, K Kilpin, S Ollosson, ... Lung 196, 231-238, 2018 | 27 | 2018 |
| Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia MR Fassad, WI Shoman, H Morsy, MP Patel, N Radwan, L Jenkins, ... Clinical Genetics 97 (3), 509-515, 2020 | 23 | 2020 |
| Novel FAM126A mutations in hypomyelination and congenital cataract disease M Traverso, S Assereto, E Gazzerro, S Savasta, EM Abdalla, A Rossi, ... Biochemical and biophysical research communications 439 (3), 369-372, 2013 | 17 | 2013 |
| Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia DDH Lee, D Cardinale, E Nigro, CR Butler, A Rutman, MR Fassad, ... European Respiratory Journal 58 (4), 2021 | 14 | 2021 |
| Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss MR Fassad, LM Desouky, S Asal, EM Abdalla International journal of molecular epidemiology and genetics 5 (4), 200, 2014 | 12 | 2014 |
| Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School H Farley, B Rubbo, Z Bukowy-Bieryllo, M Fassad, M Goutaki, K Harman, ... BMC proceedings 12, 1-15, 2018 | 9 | 2018 |
| Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability D Erdinc, A Rodríguez‐Luis, MR Fassad, S Mackenzie, CM Watson, ... EMBO Molecular Medicine 15 (5), e16775, 2023 | 8 | 2023 |
| CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma MR Fassad, AK Amin, HA Morsy, NM Issa, NH Bayoumi, SA El Shafei, ... Egyptian Journal of Medical Human Genetics 18 (3), 219-224, 2017 | 8 | 2017 |
| TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum S Mechaussier, DO Dodd, PL Yeyati, F McPhie, T Attard, A Shoemark, ... medRxiv, 2022.10. 19.22280748, 2022 | 6 | 2022 |
| Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar R Mani, M Gomes, AR González, C Hogg, D Morris-Rosendahl, B Maitre, ... European Respiratory Journal 58 (suppl 65), 2021 | 6 | 2021 |
Hannah MitchisonUniversity College LondonVerified email at ucl.ac.uk
