| Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ... JAMA psychiatry 74 (3), 293-299, 2017 | 232 | 2017 |
| 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 | 121 | 2012 |
| Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ... Genetics in Medicine 20 (9), 965-975, 2018 | 96 | 2018 |
| 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 | 93 | 2020 |
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ... Human mutation 35 (10), 1203-1210, 2014 | 93 | 2014 |
| Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients L Garavelli, I Ivanovski, SG Caraffi, D Santodirocco, M Pollazzon, ... Genetics in Medicine 19 (6), 691-700, 2017 | 61 | 2017 |
| A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family EM Abdalla, A Mostowska, PP Jagodziński, K Dwidar, SR Ismail Archives of oral biology 59 (7), 722-728, 2014 | 53 | 2014 |
| A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of … C Giunta, M Baumann, C Fauth, U Lindert, EM Abdalla, AF Brady, ... Genetics in medicine 20 (1), 42-54, 2018 | 44 | 2018 |
| New omics—derived perspectives on retinal dystrophies: could ion channels-encoding or related genes act as modifier of pathological phenotype? L Donato, C Scimone, S Alibrandi, EM Abdalla, KM Nabil, R D’Angelo, ... International Journal of Molecular Sciences 22 (1), 70, 2020 | 40 | 2020 |
| β-Globin mutations in Egyptian patients with β-thalassemia AD Elmezayen, SM Kotb, NA Sadek, EM Abdalla Laboratory Medicine 46 (1), 8-13, 2015 | 38 | 2015 |
| The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions R Reddy, NMP Nguyen, G Sarrabay, M Rezaei, MCG Rivas, A Kavasoglu, ... European Journal of Human Genetics 24 (10), 1445-1452, 2016 | 32 | 2016 |
| Impairments of photoreceptor outer segments renewal and phototransduction due to a peripherin rare haplotype variant: Insights from molecular modeling L Donato, EM Abdalla, C Scimone, S Alibrandi, C Rinaldi, KM Nabil, ... International Journal of Molecular Sciences 22 (7), 3484, 2021 | 31 | 2021 |
| Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype EM Abdalla, M Rohrbach, C Bürer, M Kraenzlin, H El-Tayeby, ... European journal of pediatrics 174, 105-112, 2015 | 27 | 2015 |
| Novel PITX 2 gene mutations in patients with Axenfeld‐Rieger syndrome M Seifi, T Footz, SAM Taylor, GM Elhady, EM Abdalla, MA Walter Acta Ophthalmologica 94 (7), e571-e579, 2016 | 26 | 2016 |
| De novo EDA mutations: Variable expression in two Egyptian families A Gaczkowska, EM Abdalla, KML Dowidar, GM Elhady, PP Jagodzinski, ... Archives of Oral Biology 68, 21-28, 2016 | 21 | 2016 |
| Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene E Abdalla, G Ravenscroft, L Zayed, SJ Beecroft, NG Laing Neuromuscular Disorders 27 (6), 537-541, 2017 | 19 | 2017 |
| 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 | 18 | 2013 |
| GestaltMatcher Database-a FAIR database for medical imaging data of rare disorders. H Lesmann, GJ Lyon, P Caro, IM Abdelrazek, S Moosa, JT Pantel, ... MedRxiv: The Preprint Server for Health Sciences, 2023 | 17 | 2023 |
| Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families EM Abdalla, BE Hayward, A Shamseddin, MM Nawar European Journal of Obstetrics & Gynecology and Reproductive Biology 164 (2 …, 2012 | 15 | 2012 |
| Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes E Thompson, E Abdalla, A Superti-Furga, W McAlister, L Kratz, S Unger, ... Bone 120, 354-363, 2019 | 14 | 2019 |
Heba Morsy, H. Morsy Abd ElkaderMedical Research Institute, Alexandria UniversityВерификована је имејл адреса на alexu.edu.eg
