Author

Lauren Kasparson Walsh

Geisinger Medical CenterORCID 0000-0002-1733-300XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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 Engin DeniziD· 2 shared Garrett AllingtoniD· 2 shared Hannah Louise SmithiD· 2 shared Hermela ShimelisiD· 2 shared

Activity by Year

2023-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Andrés Moreno-De-LucaORCID

Mutual co-authors in cluster

Author profile →

2 papers

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

𝕏 PostBluesky

NeurosciencebioRxivPreprintMar 18, 2023

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…·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.

2 citations

mouseexperimental assay

𝕏 PostBluesky