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Oguz Kanca
Baylor College of Medicine, Universität Basel Department Biozentrum, EMBL Heidelberg/ University of Heidelberg
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Developmental Biology and Gene Regulation
0000-0001-5438-0879
Employment
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Baylor College of Medicine Assistant Professor2022 - Present
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Baylor College of Medicine Instructor2020 - 2022
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Baylor College of Medicine Postdoctoral Associate2015 - 2020
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Universität Basel Department Biozentrum Post Doc.2008 - 2015
Education
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EMBL Heidelberg/ University of Heidelberg PhD2003 - 2007
Projects & Funding
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WingX SystemsX2008 - 2012
Publications (101)
- Drosophila Scm self-assembles into PcG bodies to recruit PRC2.1 to target genes during Polycomb silencing initiation Save
- Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism Save
- Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models Save
- Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders Save
- A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort Save
- Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network Save
- An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser Save
- Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome Save
- C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder Save
- De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome Save
- De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms Save
- De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies Save
- ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy Save
- Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients Save
- Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells Save
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations Save
- KIF21A -associated peripheral neuropathy defined by impaired binding with TUBB3 Save
- Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses Save
- Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila Save
- Revealing the nervous system requirements of Alzheimer’s disease risk genes in Drosophila Save