Concepedia
Statistics
Publications
5
Citations
92
H-Index
Active since
2023
Affiliations
Boston Children's Hospital(Current)
Harvard University
Yale University
Washington University in St. Louis
Massachusetts General Hospital
John Shohfi is an author at Boston Children's Hospital specializing in molecular genetics, genetics, and medical genetics.
Publications per year
2023–2025
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent et al. · Nature Communications · 2023 · 26 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Phan Q. Duy, Bettina Jux, Shujuan Zhao et al. · Brain · 2024 · 19 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Adam J. Kundishora, Garrett Allington, Stephen McGee et al. · Nature Medicine · 2023 · 18 citations · Full text
Medicine, Neurobiology, Neuroscience +14
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Amrita Singh, Garrett Allington, Stephen Viviano et al. · Brain · 2023 · 18 citations · Full text
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
Tyrone DeSpenza, Emre Kiziltug, Garrett Allington et al. · Nature Neuroscience · 2025 · 11 citations · Full text
Life Sciences, Genetics, Neuroscience +17
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