Author

John P. Shohfi

Observed names: John P Shohfi, John Shohfi

Institutions: Yale University, Massachusetts General Hospital

Observed institutions: Harvard University, Yale University, Massachusetts General Hospital

OpenAlex ID: A5081024688

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

2023 · Shujuan Zhao, Kedous Y. Mekbib, et al. · Nature Communications · 29

Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

2022 · Yung-Chun Wang, Yuchang Wu, et al. · Journal of Personalized Medicine · 24

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

2023 · Adam J. Kundishora, Garrett Allington, et al. · Nature Medicine · 22

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

2024 · Phan Q Duy, Bettina Jux, et al. · Brain · 21

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

2023 · Amrita K Singh, Garrett Allington, et al. · Brain · 19

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

2025 · Tyrone DeSpenza, Emre Kiziltug, et al. · Nature Neuroscience · 16

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

2023 · Shujuan Zhao, Kedous Y. Mekbib, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 3

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

2023 · Amrita K. Singh, Stephen Viviano, et al. · medRxiv · 2

Clinical phenotypes among patients with familial forms of Chiari malformation type 1

2025 · Kedous Y. Mekbib, William Muñoz, et al. · Journal of Neurosurgery Pediatrics · 1

345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing

2023 · Paulina Piwowarczyk, Quentin Moyer, et al. · Neurosurgery

169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation

2023 · Kedous Y. Mekbib, Shujuan Zhao, et al. · Neurosurgery

Works count: 11

Citation count: 137

H-index: 6

I10-index: 6