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Hülya Kayserili

Researcher Next ID · RN-010001

Researcher · Biochemistry, Genetics and Molecular Biology

Koç University

, Turkey

Not currently recruitingFunding unknown
Works count
349
Citation count
20,807
H-index
72
i10-index
187

Research interests

Biochemistry, Genetics and Molecular Biology
Hedgehog Signaling Pathway Studies
Connective tissue disorders research
Genetic and Kidney Cyst Diseases
Genomic variations and chromosomal abnormalities
RNA modifications and cancer

Publications

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

    Cell · 2015 · 10.1016/j.cell.2015.04.004

  • Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Science · 2014 · 10.1126/science.1247363

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

    Nature Genetics · 2009 · 10.1038/ng.423

  • Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

    The American Journal of Human Genetics · 2002 · 10.1086/342975

  • Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

    Cell · 2000 · 10.1016/s0092-8674(00)00079-9

Current projects

    No projects listed.