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Paper Details

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
3
2024
Drosophila, Drosophila orthologs, NDD, NDDs, PRPF19, PRPF19 variants, Pre-mRNA, Prp19, RBFOX1, RBFOX1 missense variants, Rbfox1, Spliceosome malfunction, U2AF2, U2AF2 hyper-recurrent variants, U2AF2 variants, U2af50, flies, human, human neurons, human pluripotent stem cells, lethality, mutant U2AF2, neurodevelopmental disorders, neurological deficits, patients, social deficits
Author NameAffiliation
Michael E MarchCenter for Applied Genomics, Children's Hospital of Philadelphia
Margaret HarrCenter for Applied Genomics, Children's Hospital of Philadelphia
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Bruce D GelbMindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai
Bruce D GelbMindich Child Health and Development Institute and the Departments of Pedia, Icahn School of Medicine at Mount Sinai
John M GreallyAlbert Einstein College of Medicine
Anna C E HurstUniversity of Alabama at Birmingham
Rebecca C SpillmannDuke University School of Medicine
Vandana ShashiDuke University School of Medicine
Lauren ChadDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children
Patrick SulemAmgen Inc.
Kari StefanssonUniversity of Iceland
Kari StefanssonUniversity of Iceland
Kathleen A Leppig
Anne SlavotinekCincinnati Children's Hospital Medical Center
Anne SlavotinekCincinnati Children's Hospital Medical Center
Elaine H ZackaiChildren's Hospital of Philadelphia
Naiara AkizuUniversity of Pennsylvania
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia
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