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Carlos Gonzalez

Counselor · Children's Hospital of Philadelphia

Credentials: ·

History

Children's Hospital of Philadelphia
Present

Research

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy
The American Journal of Human Genetics · 2026 · 1 citations
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance
medRxiv · 2026 · 1 citations
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies
medRxiv · 2026

Adeline Vanderver
6 papers
Arastoo Vossough
4 papers
Kaley Arnold
4 papers
Matthew Whitehead
4 papers
JF
Jamie Fraser
3 papers
Joshua Bonkowsky
3 papers
Laura Adang
3 papers
Lisa Emrick
3 papers
Mariko Bennett
3 papers
Amy Waldman
2 papers
Florian Eichler
2 papers
Keith Van Haren
2 papers