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Raymond G. Perelman Center for Cellular and Molecular Therapeutics
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Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
American journal of human genetics Mar, 2013 | Pubmed ID: 23453666
Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis.
Cell stem cell Dec, 2020 | Pubmed ID: 33147489
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
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nature communications Jul, 2023 | Pubmed ID: 37433783
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation Jan, 2024 | Pubmed ID: 37962958
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
Cell reports. Medicine Feb, 2024 | Pubmed ID: 38266642
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
The Children's Hospital of Philadelphia
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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