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Çiğdem Köroğlu
Çiğdem Köroğlu
NIDDK,NIH
Verified email at nih.gov
Title
Cited by
Cited by
Year
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
2222013
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
782013
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
682009
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
332015
Novel recessive cone-rod dystrophy caused by POC1B mutation
YK Durlu, Ç Köroğlu, A Tolun
JAMA ophthalmology 132 (10), 1185-1191, 2014
312014
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
292017
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
192012
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
172014
GNE missense mutation in recessive familial amyotrophic lateral sclerosis
Ç Köroğlu, R Yılmaz, MH Sorgun, S Solakoğlu, Ö Şener
Neurogenetics 18, 237-243, 2017
142017
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
122020
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
112021
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
82020
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
22022
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
22022
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
22020
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
12022
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
12021
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
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Articles 1–20