| Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly RMK Shabbir, G Nalbant, N Ahmad, S Malik, A Tolun Journal of Medical Genetics 55 (7), 489-496, 2018 | 22 | 2018 |
| CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies M Koprulu, RMK Shabbir, Q Zaman, G Nalbant, S Malik, A Tolun European Journal of Medical Genetics 64 (4), 104181, 2021 | 11 | 2021 |
| Novel EDAR mutation in tooth agenesis and variable associated features S Mumtaz, G Nalbant, EY Bölükbaşı, Z Huma, N Ahmad, A Tolun, S Malik European Journal of Medical Genetics 63 (9), 103926, 2020 | 7 | 2020 |
| KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies M Koprulu, M Naeem, G Nalbant, RMK Shabbir, T Mahmood, Z Huma, ... European Journal of Human Genetics 30 (11), 1292-1296, 2022 | 4 | 2022 |
| A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods S Malik, G Nalbant, M Noreen, M Afzal, A Tolun American Journal of Medical Genetics Part A 188 (1), 343-349, 2022 | 2 | 2022 |
| FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems RN Mavioğlu, B Kara, G Akansel, G Nalbant, A Tolun Clinical Genetics 96 (5), 456-460, 2019 | 1 | 2019 |
| Focus: Big Data: Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two … SF Naqvi, E Yıldız-Bölükbaşı, M Afzal, G Nalbant, S Mumtaz, A Tolun, ... The Yale Journal of Biology and Medicine 96 (3), 347, 2023 | | 2023 |
| Focus: Big Data: A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family RMK Shabbir, G Nalbant, Q Zaman, A Tolun, S Malik, S Mumtaz The Yale Journal of Biology and Medicine 96 (3), 313, 2023 | | 2023 |
| SHFM3 caused by a duplication involving BTRC but not POLL and with possible modifier variants in FRAS1 and C2CD3 G Nalbant, A Tolun EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 179-179, 2022 | | 2022 |
| Linked homozygous CRADD and USP44 variants in intellectual disability M Koprulu, G Nalbant, Q Zaman, R Shabbir, M Kamran, S Malik, A Tolun EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1382-1383, 2019 | | 2019 |
| A small homozygous CHST11 deletion in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly RMK Shabbir, G Nalbant, N Ahmad, S Malik, A Tolun EUROPEAN JOURNAL OF HUMAN GENETICS 27, 98-99, 2019 | | 2019 |
