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 |
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 343 | 2016 |
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy G Novarino, P El-Fishawy, H Kayserili, NA Meguid, EM Scott, J Schroth, ... Science 338 (6105), 394-397, 2012 | 323 | 2012 |
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder DC Tărlungeanu, E Deliu, CP Dotter, M Kara, PC Janiesch, M Scalise, ... Cell 167 (6), 1481-1494. e18, 2016 | 280 | 2016 |
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ... Nature genetics 47 (7), 809-813, 2015 | 234 | 2015 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
Mutations in CSPP1 lead to classical Joubert syndrome N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ... The American Journal of Human Genetics 94 (1), 80-86, 2014 | 93 | 2014 |
Hypoglycemic effect of Rheum ribes roots in alloxan induced diabetic and normal mice. H Özbek, E Ceylan, M Kara, F Özgökçe, M Koyuncu | 82 | 2004 |
Clinical features and molecular epidemiology of rotavirus and norovirus infections in Libyan children M Abugalia, L Cuevas, A Kirby, W Dove, O Nakagomi, T Nakagomi, ... Journal of medical virology 83 (10), 1849-1856, 2011 | 78 | 2011 |
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration AE Schaffer, MW Breuss, AO Caglayan, N Al-Sanaa, HY Al-Abdulwahed, ... Nature genetics 50 (8), 1093-1101, 2018 | 70 | 2018 |
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ... Journal of inherited metabolic disease 44 (1), 178-192, 2021 | 69 | 2021 |
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ... Nature Communications 11 (1), 4038, 2020 | 55 | 2020 |
Phenotypic and molecular spectrum of Aicardi-Goutières syndrome: a study of 24 patients F Al Mutairi, M Alfadhel, M Nashabat, AW El-Hattab, T Ben-Omran, ... Pediatric Neurology 78, 35-40, 2018 | 50 | 2018 |
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 41 | 2020 |
Rheum ribes (Uşkun) Kökü Ekstresinin Sağlıklı ve Diyabetli Farelerdeki Hipoglisemik Etkisi, 14 H Özbek, E Ceylan, M Kara, F Özgökçe, M Koyuncu Bitkisel İlaç Hammaddeleri Toplantısı, Bildiri Kitabı B 13, 2002 | 9 | 2002 |
Rheum ribes (uşkun) kökünün normal farelerde ve alloxan’la diyabet oluşturulmuş farelerde hipoglisemik etkisi H Özbek, E Ceylan, M Kara, F Özgökçe, M Koyuncu XIV. BİHAT, 29-31, 2002 | 7 | 2002 |
AB0212 Comparison of the effects of polypharmacy in the treatment of rheumatoid arthritis patients and psoriatic arthritis patients with peripheral joint involvement M Kara, SP Yavaş, A Taşdemir, S Ketenci Annals of the Rheumatic Diseases 81 (Suppl 1), 1234-1235, 2022 | 3 | 2022 |
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly L Wang, Z Li, D Sievert, DEC Smith, MI Mendes, DY Chen, V Stanley, ... Nature communications 12 (1), 1192, 2021 | 2 | 2021 |
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease E Calì, SJ Lin, C Rocca, Y Sahin, A Al Shamsi, S El Chehadeh, ... Genetics in Medicine 24 (10), 2194-2203, 2022 | 1 | 2022 |
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, ... The American Journal of Human Genetics 111 (1), 200-210, 2024 | | 2024 |