| Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation YJ Yang, AE Baltus, RS Mathew, EA Murphy, GD Evrony, DM Gonzalez, ... Cell 151 (5), 1097-1112, 2012 | 203 | 2012 |
| A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly GH Mochida, M Mahajnah, AD Hill, L Basel-Vanagaite, D Gleason, ... The American Journal of Human Genetics 85 (6), 897-902, 2009 | 184 | 2009 |
| The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation M Mallaret, M Synofzik, J Lee, CA Sagum, M Mahajnah, R Sharkia, ... Brain 137 (2), 411-419, 2014 | 119 | 2014 |
| Childhood-onset idiopathic intracranial hypertension: relation of sex and obesity J Genizi, E Lahat, N Zelnik, M Mahajnah, S Ravid, E Shahar Pediatric neurology 36 (4), 247-249, 2007 | 50 | 2007 |
| Microvillous inclusion disease: ultrastructural variability TC Iancu, M Mahajnah, I Manov, R Shaoul Ultrastructural Pathology 31 (3), 173-188, 2007 | 47 | 2007 |
| Pediatric-onset gelastic seizures: clinical data and outcome E Shahar, U Kramer, M Mahajnah, T Lerman-Sagie, R Goez, V Gross, ... Pediatric neurology 37 (1), 29-34, 2007 | 45 | 2007 |
| Loss of glycine transporter 1 causes a subtype of glycine encephalopathy with arthrogryposis and mildly elevated cerebrospinal fluid glycine A Kurolap, A Armbruster, T Hershkovitz, K Hauf, A Mory, T Paperna, ... The American Journal of Human Genetics 99 (5), 1172-1180, 2016 | 39 | 2016 |
| Modeling genetic epileptic encephalopathies using brain organoids DJ Steinberg, S Repudi, A Saleem, I Kustanovich, S Viukov, B Abudiab, ... EMBO Molecular Medicine 13 (8), e13610, 2021 | 31 | 2021 |
| Multiplex families with epilepsy: Success of clinical and molecular genetic characterization Z Afawi, KL Oliver, S Kivity, A Mazarib, I Blatt, MY Neufeld, KL Helbig, ... Neurology 86 (8), 713-722, 2016 | 31 | 2016 |
| Clinical characteristics of autism spectrum disorder in Israel: impact of ethnic and social diversities M Mahajnah, R Sharkia, H Shalabe, R Terkel-Dawer, A Akawi, N Zelnik BioMed Research International 2015, 2015 | 30 | 2015 |
| Benign hereditary chorea: clinical, neuroimaging, and genetic findings M Mahajnah, D Inbar, A Steinmetz, P Heutink, GJ Breedveld, ... Journal of Child Neurology 22 (10), 1231-1234, 2007 | 29 | 2007 |
| First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery H Hengel, R Buchert, M Sturm, TB Haack, Y Schelling, M Mahajnah, ... European Journal of Human Genetics 28 (8), 1034-1043, 2020 | 27 | 2020 |
| A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome R Sharkia, A Zalan, A Jabareen-Masri, H Zahalka, M Mahajnah European journal of medical genetics 62 (11), 103549, 2019 | 26 | 2019 |
| Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus AK Mayer, M Mahajnah, MG Thomas, Y Cohen, A Habib, M Schulze, ... Brain 142 (6), 1528-1534, 2019 | 26 | 2019 |
| Changes in marriage patterns among the Arab community in Israel over a 60-year period R Sharkia, M Mahajnah, E Athamny, M Khatib, A Sheikh-Muhammad, ... Journal of biosocial science 48 (2), 283-287, 2016 | 26 | 2016 |
| A prospective case study of the safety and efficacy of lysine-restricted diet and arginine supplementation therapy in a patient with pyridoxine-dependent epilepsy caused by … M Mahajnah, D Corderio, V Austin, S Herd, C Mutch, M Carter, E Struys, ... Pediatric Neurology 60, 60-65, 2016 | 24 | 2016 |
| Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome R Sharkia, KJ Wierenga, A Kessel, A Azem, E Bertini, R Carrozzo, ... Journal of inherited metabolic disease 42 (2), 264-275, 2019 | 22 | 2019 |
| The influence of excessive chewing gum use on headache frequency and severity among adolescents N Watemberg, M Matar, M Har-Gil, M Mahajnah Pediatric Neurology 50 (1), 69-72, 2014 | 22 | 2014 |
| The liver in congenital disorders of glycosylation: ultrastructural features TC Iancu, M Mahajnah, I Manov, S Cherurg, C Knopf, H Mandel Ultrastructural pathology 31 (3), 189-197, 2007 | 22 | 2007 |
| Comparative screening of FMF mutations in various communities of the Israeli society R Sharkia, M Mahajnah, A Zalan, M Athamna, A Azem, K Badarneh, ... European Journal of Medical Genetics 56 (7), 351-355, 2013 | 20 | 2013 |
