| The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 85* | 2019 |
| High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 45 | 2021 |
| Dermoscopy of cutaneous neurofibromas associated with neurofibromatosis type 1 N Duman, M Elmas Journal of the American Academy of Dermatology 73 (3), 529-531, 2015 | 24 | 2015 |
| Success of face analysis technology in rare genetic diseases diagnosed by whole-exome sequencing: a single-center experience M Elmas, B Gogus Molecular Syndromology 11 (1), 4-14, 2020 | 22 | 2020 |
| Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience M Elmas, H Yıldız, M Erdoğan, B Gogus, K Avcı, M Solak Molecular biology reports 46, 287-299, 2019 | 20 | 2019 |
| Infantile type Sandhoff disease with striking brain MRI findings and a novel mutation M Beker-Acay, M Elmas, R Koken, E Unlu, A Bukulmez Polish journal of radiology 81, 86, 2016 | 17 | 2016 |
| 46, XX, der (15), t (Y; 15)(q12; p11) karyotype in an azoospermic male ST Onrat, Z Söylemez, M Elmas Indian Journal of Human Genetics 18 (2), 241, 2012 | 13 | 2012 |
| The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice A Vural, G Şimşir, Ş Tekgül, C Koçoğlu, F Akcimen, E Kartal, NE Şen, ... Movement Disorders 36 (7), 1676-1688, 2021 | 12 | 2021 |
| Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ... Functional & integrative genomics 22 (3), 291-315, 2022 | 10 | 2022 |
| A rare case of 3C disease: Ritscher–Schinzel syndrome presenting with recurrent talipes equinovarus MN Konya, M Elmas, SE Erginoğlu, M Yeşil International Journal of Surgery Case Reports 7, 130-133, 2015 | 7 | 2015 |
| Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review M Elmas, B Gogus, M Solak Clinical Medicine Insights: Case Reports 13, 1179547620948666, 2020 | 6 | 2020 |
| Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome TA Ali, K Afra, BE Didem, E Muhsin Journal of Indian Association of Pediatric Surgeons 21 (4), 193-195, 2016 | 6 | 2016 |
| Neurodevelopment and genetic evaluation of Sotos syndrome cases with a novel mutation: a single-center experience E Muhsin, G Basak, D Banu, G Alper, S Mustafa Journal of Molecular Neuroscience 72 (1), 149-157, 2022 | 5 | 2022 |
| Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases B Değirmenci, M Solak, SH Yildiz, MO Erdogan, M Elmas, T Fistik Meta Gene 19, 78-81, 2019 | 4 | 2019 |
| First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis? R Duman, N Duman, M Elmas, GF Yavas Clinical Dysmorphology 25 (1), 31-34, 2016 | 4 | 2016 |
| A female case of 5, 10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities D Cavusoglu, M Kose, E Er, M Elmas, P Gencpinar, NO Dundar, K Aydin Brain and Development 44 (9), 640-644, 2022 | 2 | 2022 |
| Common anomalies associated to congenital vertical talus: A single center experience E Muhsin Int J Foot Ankle 2 (2), 1-4, 2018 | 2 | 2018 |
| Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses. MN Konya, M Elmas, Ç Özdemir Eklem Hastaliklari ve Cerrahisi= Joint Diseases & Related Surgery 28 (2 …, 2017 | 2 | 2017 |
| Relationship between expression levels of TDRD7 and CRYBB3 and development of age-related cortico-nuclear cataracts SH Yildiz, C Karaosmanoğlu, R Duman, N Varol, M Özdemir Erdoğan, ... Egyptian Journal of Medical Human Genetics 24 (1), 16, 2023 | 1 | 2023 |
| The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1 M Elmas, B Göğüş The European Research Journal 8 (2), 145-154, 2022 | 1 | 2022 |
