Author

Kerem Esmen

Dokuz Eylül UniversityORCID 0000-0002-5815-6978Unclaimed ORCID profile · follow to get notified of new preprints

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Kerem Esmen1 paper · Rare and Undiagnosed Diseases Platform-RUDIP, Izmir Biomedicine and Genome Center, Izmir, Turkey;

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1

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A. Semra Hız· 1 shared Alexandra DürriD· 1 shared Ayşe Miray OtoiD· 1 shared Emine Eren‐KoçakiD· 1 shared Erum AfzaliD· 1 shared Giulia CoarelliiD· 1 shared Gökhan KarakülahiD· 1 shared H. Alper BAGRIYANIK· 1 shared

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2026-2026 · peak 1/yr

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1 shared paperGenetics

A. Semra Hız

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1 paper

Recent·Most cited

GeneticsGenesPeer-reviewedJun 5, 2026

Characterization of a novel neurodevelopmental rare disease caused by a mutation within the autophagy gene ATG9B

Seval Kılıç, Kerem Esmen, Jean‐Loup Méreaux…·M. Kasim Diril

The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.

DOI 10.3390/genes17060660

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