| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 559 | 2014 |
| Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ... Brain 140 (5), 1316-1336, 2017 | 511 | 2017 |
| Exome sequencing can improve diagnosis and alter patient management TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ... Science translational medicine 4 (138), 138ra78-138ra78, 2012 | 294 | 2012 |
| Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ... Nature communications 7 (1), 11601, 2016 | 273 | 2016 |
| Characterisation of COVID-19 pandemic in paediatric age group: a systematic review and meta-analysis NM Mustafa, LA Selim Journal of Clinical Virology 128, 104395, 2020 | 215 | 2020 |
| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 139 | 2015 |
| Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants SA Jones, V Valayannopoulos, E Schneider, S Eckert, M Banikazemi, ... Genetics in Medicine 18 (5), 452-458, 2016 | 105 | 2016 |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ... Brain 143 (11), 3242-3261, 2020 | 67 | 2020 |
| Biallelic variants in KIF14 cause intellectual disability with microcephaly P Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ... European journal of human genetics 26 (3), 330-339, 2018 | 67 | 2018 |
| Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: the first newborn screening pilot study FA Hassan, F El-Mougy, SA Sharaf, I Mandour, MF Morgan, LA Selim, ... Journal of medical screening 23 (3), 124-129, 2016 | 62 | 2016 |
| Molybdenum cofactor and isolated sulphite oxidase deficiencies: clinical and molecular spectrum among Egyptian patients MS Zaki, L Selim, HT El-Bassyouni, MY Issa, I Mahmoud, S Ismail, ... european journal of paediatric neurology 20 (5), 714-722, 2016 | 52 | 2016 |
| Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report LA Selim, SAH Hassan, F Salem, A Orabi, FA Hassan, F El-Mougy, ... Clinical biochemistry 47 (9), 823-828, 2014 | 52 | 2014 |
| Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder CM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ... The American Journal of Human Genetics 105 (5), 1048-1056, 2019 | 41 | 2019 |
| Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group MENA Pompe Working Group, F Al Jasmi, M Al Jumah, F Alqarni, ... BMC neurology 15, 1-17, 2015 | 41 | 2015 |
| Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology S Elouej, K Harhouri, M Le Mao, G Baujat, S Nampoothiri, H Kayserili, ... Nature communications 11 (1), 4589, 2020 | 40 | 2020 |
| PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive MS Zaki, G Bhat, T Sultan, M Issa, HJ Jung, E Dikoglu, L Selim, ... Annals of neurology 80 (1), 59-70, 2016 | 40 | 2016 |
| ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients ABP Van Kuilenburg, D Dobritzsch, J Meijer, M Krumpel, LA Selim, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (7 …, 2012 | 39 | 2012 |
| ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients ABP Van Kuilenburg, D Dobritzsch, J Meijer, M Krumpel, LA Selim, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (7 …, 2012 | 39 | 2012 |
| Lysosomal storage disorders in Egyptian children MA Elmonem, IG Mahmoud, DA Mehaney, SA Sharaf, SA Hassan, ... The Indian Journal of Pediatrics 83, 805-813, 2016 | 36 | 2016 |
| PRRT2 mutations: exploring the phenotypical boundaries T Djémié, S Weckhuysen, P Holmgren, K Hardies, T Van Dyck, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (4), 462-465, 2014 | 36 | 2014 |
