DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability Ç Köroğlu, L Baysal, M Cetinkaya, H Karasoy, A Tolun Parkinsonism & related disorders 19 (3), 320-324, 2013 | 222 | 2013 |
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism Ç Köroğlu, M Seven, A Tolun Journal of medical genetics 50 (8), 515-520, 2013 | 78 | 2013 |
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24. 3–q25. 1 U Dursun, C Koroglu, E Kocasoy Orhan, SA Ugur, A Tolun Neurogenetics 10, 325-331, 2009 | 69 | 2009 |
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy E Erken, Ç Köroğlu, F Yıldız, HTE Özer, B Gülek, A Tolun Modern Rheumatology 25 (2), 315-321, 2015 | 33 | 2015 |
Novel recessive cone-rod dystrophy caused by POC1B mutation YK Durlu, Ç Köroğlu, A Tolun JAMA ophthalmology 132 (10), 1185-1191, 2014 | 31 | 2014 |
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A B Kara, Ç Köroğlu, K Peltonen, RC Steinberg, H Maraş Genç, ... European Journal of Human Genetics 25 (3), 315-323, 2017 | 29 | 2017 |
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood E Lohmann, Ç Köroğlu, HA Hanagasi, B Dursun, E Taşan, A Tolun Parkinsonism & related disorders 18 (2), 191-193, 2012 | 19 | 2012 |
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family Y Yıldırım, M Kerem, Ç Köroğlu, A Tolun European Journal of Human Genetics 22 (3), 333-337, 2014 | 17 | 2014 |
GNE missense mutation in recessive familial amyotrophic lateral sclerosis Ç Köroğlu, R Yılmaz, MH Sorgun, S Solakoğlu, Ö Şener Neurogenetics 18, 237-243, 2017 | 14 | 2017 |
Characterization of exome variants and their metabolic impact in 6,716 American Indians from the Southwest US HI Kim, B Ye, N Gosalia, Ç Köroğlu, RL Hanson, WC Hsueh, WC Knowler, ... The American Journal of Human Genetics 107 (2), 251-264, 2020 | 12 | 2020 |
Exome sequencing of 21 Bardet‐Biedl syndrome (BBS) genes to identify obesity variants in 6,851 American Indians SE Day, YL Muller, C Koroglu, S Kobes, K Wiedrich, D Mahkee, HI Kim, ... Obesity 29 (4), 748-754, 2021 | 11 | 2021 |
Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians P Piaggi, Ç Köroğlu, AK Nair, J Sutherland, YL Muller, P Kumar, ... The Journal of Clinical Endocrinology & Metabolism 105 (11), e3989-e4000, 2020 | 8 | 2020 |
A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians YL Muller, J Sutherland, AK Nair, C Koroglu, S Kobes, WC Knowler, ... Diabetes/metabolism Research and Reviews 38 (3), e3504, 2022 | 2 | 2022 |
Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity SE Day, M Traurig, P Kumar, P Piaggi, C Koroglu, S Kobes, RL Hanson, ... Obesity 30 (2), 546-552, 2022 | 2 | 2022 |
Assessing established BMI variants for a role in nighttime eating behavior in robustly phenotyped Southwestern American Indians Ç Köroğlu, ME Gluck, M Traurig, SB Votruba, J Krakoff, EJ Stinson, ... European Journal of Clinical Nutrition 74 (12), 1718-1724, 2020 | 2 | 2020 |
Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians YL Muller, M Saporito, S Day, K Bandesh, C Koroglu, S Kobes, ... European Journal of Human Genetics 30 (10), 1159-1166, 2022 | 1 | 2022 |
Next generation sequencing for HLA loci in full heritage Pima Indians of Arizona, Part II: HLA-A,-B, and-C with selected non-classical loci at 4-field resolution from whole … RC Williams, C Koroglu, WC Knowler, AR Shuldiner, N Gosalia, ... Human immunology 82 (6), 385-403, 2021 | 1 | 2021 |
De novo genome assemblies from two Indigenous Americans from Arizona identify new polymorphisms in non-reference sequences Ç Köroğlu, P Chen, M Traurig, S Altok, C Bogardus, LJ Baier bioRxiv, 2023.10. 23.563520, 2023 | | 2023 |
Body Weights and Mass and Links with Nighttime Eating C Koroglu, LJ Baier Eating Disorders, 1191-1205, 2023 | | 2023 |
Association of protein function-altering variants with cardiometabolic traits: the strong heart study Y Shan, SA Cole, K Haack, PE Melton, LG Best, C Bizon, S Kobes, ... Scientific Reports 12 (1), 9317, 2022 | | 2022 |