| Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome R Shaheen, E Faqeih, A Sunker, H Morsy, T Al-Sheddi, HE Shamseldin, ... The American Journal of Human Genetics 89 (2), 328-333, 2011 | 154 | 2011 |
| Characterizing the morbid genome of ciliopathies R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Genome biology 17, 1-11, 2016 | 150 | 2016 |
| Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome E Kalay, O Sezgin, V Chellappa, M Mutlu, H Morsy, H Kayserili, E Kreiger, ... The American Journal of Human Genetics 90 (1), 76-85, 2012 | 113 | 2012 |
| The morbid genome of ciliopathies: an update HE Shamseldin, R Shaheen, N Ewida, DK Bubshait, H Alkuraya, ... Genetics in Medicine 22 (6), 1051-1060, 2020 | 80 | 2020 |
| 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 |
| Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome BL Latour, JC Van De Weghe, TDS Rusterholz, SJF Letteboer, A Gomez, ... The Journal of clinical investigation 130 (8), 4423-4439, 2020 | 52 | 2020 |
| Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy N Chatron, F Becker, H Morsy, M Schmidts, K Hardies, B Tuysuz, ... Brain 143 (5), 1447-1461, 2020 | 24 | 2020 |
| 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 |
| A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity A Nabil, S El Shafei, NM El Shakankiri, A Habib, H Morsy, S Maddirevula, ... European Journal of Medical Genetics 63 (6), 103917, 2020 | 17 | 2020 |
| Bi-allelic loss of human APC2, encoding adenomatous polyposis coli protein 2, leads to lissencephaly, subcortical heterotopia, and global developmental delay S Lee, DY Chen, MS Zaki, R Maroofian, H Houlden, N Di Donato, D Abdin, ... The American Journal of Human Genetics 105 (4), 844-853, 2019 | 17 | 2019 |
| Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications E Rosenhahn, TJ O’Brien, MS Zaki, I Sorge, D Wieczorek, K Rostasy, ... The American Journal of Human Genetics 109 (8), 1421-1435, 2022 | 13 | 2022 |
| The association between interleukin 1 beta promoter polymorphisms and keratoconus incidence and severity in an Egyptian population KM Nabil, GM Elhady, H Morsy Clinical Ophthalmology, 2217-2223, 2019 | 11 | 2019 |
| Bartsocas-Papas syndrome: unusual findings in the first reported egyptian family EM Abdalla, H Morsy Case reports in genetics 2011, 2011 | 10 | 2011 |
| 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 |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing AS Denommé-Pichon, L Matalonga, E de Boer, A Jackson, E Benetti, ... Genetics in Medicine 25 (4), 100018, 2023 | 6 | 2023 |
| ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability BL Latour, JC Van De Weghe, TDS Rusterholz, SJF Letteboer, A Gomez, ... bioRxiv, 817213, 2019 | 6 | 2019 |
| Ciliopathy WorkingGroup R Shaheen, K Szymanska, B Basu, N Patel, N Ewida, E Faqeih, ... Characterizing the morbid genome of ciliopathies. Genome Biol 17, 242, 2016 | 6 | 2016 |
| Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ... Genetics in Medicine 25 (1), 76-89, 2023 | 5 | 2023 |
| The morbid genome of ciliopathies: an update HE Shamseldin, R Shaheen, N Ewida, DK Bubshait, H Alkuraya, ... Genetics in Medicine 24 (4), 966, 2022 | 5 | 2022 |
| Neuromuscular disease genetics in under-represented populations: increasing data diversity LA Wilson, WL Macken, LD Perry, CJ Record, KR Schon, RSS Frezatti, ... Brain 146 (12), 5098-5109, 2023 | 3 | 2023 |
