Author

Engin Deniz

Yale UniversityORCID 0000-0002-2999-0429Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrés Moreno-De-LucaiD· 2 shared Benjamin C. ReevesiD· 2 shared Carol J. Nelson-WilliamsiD· 2 shared Emre Kiziltug· 2 shared Garrett AllingtoniD· 2 shared Hannah Louise SmithiD· 2 shared Hermela ShimelisiD· 2 shared Kedous Y. MekbibiD· 2 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrés Moreno-De-LucaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

Amrita K. Singh, Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib, John P. Shohfi, Phan Q. Duy, Tyrone DeSpenza, Charuta Gavankar Furey, Benjamin C. Reeves, Hannah Louise Smith, Shaojie Ma, André M. M. Sousa, Adriana Cherskov, , Kristopher Thomas Kahle

This study identifies SMARCC1 mutations as a cause of congenital hydrocephalus, showing they lead to neural progenitor dysfunction and a new syndrome called SaDDS.

medRxiv · Mar 19, 2023 · PreprintGenetic & Genomic Medicine

Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants

Tyrone DeSpenza, Emre Kiziltug, Garrett Allington, Daniel G. Barson, David A. O’Connor, Stephanie M. Robert, Kedous Y. Mekbib, Pranav Nanda, Ana B.W. Greenberg, Amrita Singh, Phan Q. Duy, Francesca Mandino, Shujuan Zhao, Anna Y. Lynn, Benjamin C. Reeves, , Kristopher Thomas Kahle

This study shows PTEN mutations cause ventriculomegaly and cortical network dysfunction through neural precursor and interneuron dysregulation, with mTORC1 inhibition offering therapeutic potential.

bioRxiv · Mar 18, 2023 · PreprintNeuroscience