Author

August A. Allocco

Yale UniversityORCID 0000-0003-3395-6044Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Adriana CherskoviD· 1 shared Amrita K. SinghiD· 1 shared André M. M. SousaiD· 1 shared Andrés Moreno-De-LucaiD· 1 shared Benjamin C. ReevesiD· 1 shared Carol J. Nelson-WilliamsiD· 1 shared Charuta Gavankar FureyiD· 1 shared Emre Kiziltug· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adriana CherskovORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 19, 2023

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

Amrita K. Singh, Stephen Viviano, Garrett Allington…·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.

2 citations

humanwhole-exome sequencing

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