Author

John M. Schreiber

Children's NationalORCID 0000-0003-0615-2497Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Organism:mouse· 1

Frequent Co-Authors

Adam Hunter· 1 shared Alexandra S. NeaversoniD· 1 shared Alison J. CuttsiD· 1 shared Andrew Day· 1 shared Andrew H. CrosbyiD· 1 shared Andrew Y. ShueniD· 1 shared Binnaz YalciniD· 1 shared Caleb P. BuppiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Adam Hunter

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintJul 15, 2022

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade…·Sebastian S. Gerety

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

1 citation

mousehuman

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Genetic & Genomic MedicineSeizurePeer-reviewedMar 10, 2022

Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey

Alison J. Cutts, Hillary Savoie, Michael F. Hammer…·Dietrich Haubenberger

This study surveys caregivers of SCN8A-DEE patients to describe clinical features and treatment challenges, finding high seizure burden, multiple comorbidities, and limited effective therapies.

13 citations

humanexperimental assay

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