Author

Amrita K. Singh

Harvard UniversityORCID 0000-0002-2475-9797Unclaimed 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 André M. M. SousaiD· 1 shared Andrés Moreno-De-LucaiD· 1 shared August A. AlloccoiD· 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

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