Oguz Kanca
Affiliations: | Baylor College of Medicine, Houston, TX |
Area:
GeneticsGoogle:
"Oguz Kanca"Parents
Sign in to add mentor| Pernille Rorth | grad student | 2003-2007 | EMBL, Heidelberg |
| Hugo J. Bellen | post-doc | 2015- | Baylor College of Medicine |
| Markus Affolter | post-doc | 2008-2014 | Biozentrum Universität Basel |
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Publications
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| Huang Y, Xiang Z, Xiang Y, et al. (2025) Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. Journal of Genetics and Genomics = Yi Chuan Xue Bao |
| Yasuda R, Hashimoto H, Oka M, et al. (2025) Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Human Molecular Genetics |
| Mok JW, Mackay L, Blazo M, et al. (2025) C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101429 |
| Bereshneh AH, Andrews JC, Eberl DF, et al. (2025) De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. American Journal of Human Genetics |
| Booth KTA, Jangam SV, Chui MMC, et al. (2025) De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain : a Journal of Neurology |
| Gill S, Mandigo TR, Elmali AD, et al. (2024) A conserved role for ALG10/ALG10B and the -glycosylation pathway in the sleep-epilepsy axis. Medrxiv : the Preprint Server For Health Sciences |
| Aceves-Ewing NM, Lanza DG, Marcogliese PC, et al. (2024) Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling. Medrxiv : the Preprint Server For Health Sciences |
| Gomez VA, Kanca O, Jangam SV, et al. (2024) Distinguishing gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in . Biorxiv : the Preprint Server For Biology |
| Jay KL, Gogate N, Ezell K, et al. (2024) Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models. Medrxiv : the Preprint Server For Health Sciences |
| Goodman LD, Ralhan I, Li X, et al. (2024) Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress. Nature Neuroscience |