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Thomas Roule

Raymond G. Perelman Center for Cellular and Molecular Therapeutics

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PUBLICATIONS

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.

bioRxiv : the preprint server for biology Jun, 2023 | Pubmed ID: 37425875

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.

bioRxiv : the preprint server for biology Jan, 2024 | Pubmed ID: 38328116

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.

Cell stem cell Mar, 2024 | Pubmed ID: 38458176

INSTITUTIONS

The Children's Hospital of Philadelphia

JOVE ARTICLES

Elizabeth Abraham¹,

Mikel Zubillaga¹,

Thomas Roule²,

Eleonora Stronati³,

Naiara Akizu²,

Conchi Estaras¹

¹Department of Cardiovascular Sciences, Aging + Cardiovascular Discovery Center, Temple University, Lewis Katz School of Medicine,

²Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia,

³Department of Child and Adolescence Psychiatry, Children's Hospital of Philadelphia

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