| Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ... Nature genetics 48 (9), 1043-1048, 2016 | 588 | 2016 |
| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1268-1283. e6, 2018 | 576 | 2018 |
| Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ... Nature genetics 43 (4), 295-301, 2011 | 184 | 2011 |
| Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis European Journal of Human Genetics 26 (10), 1537-1546, 2018 | 132 | 2018 |
| Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion O Emre Onat, S Gulsuner, K Bilguvar, A Nazli Basak, H Topaloglu, M Tan, ... European Journal of Human Genetics 21 (3), 281-285, 2013 | 125 | 2013 |
| Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease A Traschütz, A Cortese, S Reich, N Dominik, J Faber, H Jacobi, ... Neurology 96 (9), e1369-e1382, 2021 | 113 | 2021 |
| The distinct genetic pattern of ALS in Turkey and novel mutations A Özoğuz, Ö Uyan, G Birdal, C Iskender, E Kartal, S Lahut, Ö Ömür, ... Neurobiology of aging 36 (4), 1764. e9-1764. e18, 2015 | 105 | 2015 |
| β-Thalassemia in Turkey: A review of the clinical, epidemiological, molecular, and evolutionary aspects GO Tadmouri, AN Başak Hemoglobin 25 (2), 227-239, 2001 | 100 | 2001 |
| Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred S Gulsuner, AB Tekinay, K Doerschner, H Boyaci, K Bilguvar, H Unal, ... Genome Research 21 (12), 1995-2003, 2011 | 83 | 2011 |
| The molecular basis of β-thalassemia in Turkey AN Başak, H Özçelik, A Özer, A Tolun, M Aksoy, L Ağaoğlu, F Ridolfi, ... Human genetics 89, 315-318, 1992 | 77 | 1992 |
| Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS M Synofzik, D Ronchi, I Keskin, AN Basak, C Wilhelm, C Gobbi, A Birve, ... Human molecular genetics 21 (16), 3568-3574, 2012 | 72 | 2012 |
| Efficient prevention of neurodegenerative diseases by depletion of starvation response factor Ataxin-2 G Auburger, NE Sen, D Meierhofer, AN Başak, AD Gitler Trends in neurosciences 40 (8), 507-516, 2017 | 64 | 2017 |
| Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis J Cooper-Knock, T Moll, T Ramesh, L Castelli, A Beer, H Robins, I Fox, ... Cell reports 26 (9), 2298-2306. e5, 2019 | 61 | 2019 |
| Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans S Lesage, E Patin, C Condroyer, AL Leutenegger, E Lohmann, N Giladi, ... Human Molecular Genetics 19 (10), 1998-2004, 2010 | 61 | 2010 |
| The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease S Metzger, P Bauer, J Tomiuk, F Laccone, S Didonato, C Gellera, ... Neurogenetics 7, 27-30, 2006 | 59 | 2006 |
| Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients A Traschütz, T Schirinzi, L Laugwitz, NH Murray, CA Bingman, S Reich, ... Annals of neurology 88 (2), 251-263, 2020 | 57 | 2020 |
| The genetic structure of the Turkish population reveals high levels of variation and admixture ME Kars, AN Başak, OE Onat, K Bilguvar, J Choi, Y Itan, C Çağlar, ... Proceedings of the National Academy of Sciences 118 (36), e2026076118, 2021 | 56 | 2021 |
| Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis JO Johnson, R Chia, DE Miller, R Li, R Kumaran, Y Abramzon, ... JAMA neurology 78 (10), 1236-1248, 2021 | 54 | 2021 |
| Safety and efficacy of non‐steroidal anti‐inflammatory drugs to reduce ileus after colorectal surgery EuroSurg Collaborative, SJ Chapman, D Clerc, R Blanco‐Colino, A Otto, ... British Journal of Surgery 107 (2), e161-e169, 2020 | 54 | 2020 |
| Discovery, validation and characterization of Erbb4 and Nrg1 haplotypes using data from three genome-wide association studies of schizophrenia ZS Agim, M Esendal, L Briollais, O Uyan, M Meschian, LAM Martinez, ... PloS one 8 (1), e53042, 2013 | 54 | 2013 |
