Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders
These compelling preliminary findings motivate further genetic and functional characterization as the downstream impact of DDR deficits may point to novel treatment strategies. .
Authors
- Jhih-Rong Lin
- Hedwig Dolstra
- Judy A. Shea (ORCID: https://orcid.org/0000-0002-7334-4192)
- Jennifer Frankovich (ORCID: https://orcid.org/0000-0001-7356-5617)
- Janet L. Cunningham (ORCID: https://orcid.org/0000-0001-7876-7779)
- Siamala Sinnadurai
- Peter J. van der Spek (ORCID: https://orcid.org/0000-0002-2203-0652)
- Robert Dubin (ORCID: https://orcid.org/0000-0001-5556-7248)
- Zhengdong D. Zhang (ORCID: https://orcid.org/0000-0001-9508-1429)
- Gonzalo Laje
- Refıa Nur Baykara
- Sigrid M. A. Swagemakers
- Noelle Schlenk (ORCID: https://orcid.org/0000-0001-8194-9194)
- Herbert M. Lachman
- Jacqueline Marino
- Erika Pedrosa
- Jacob Edinger
- Shahina B. Maqbool
Institutions
- Uppsala University (SE)
- Albert Einstein College of Medicine (US)
- Erasmus MC (NL)
- Postgraduate School of Molecular Medicine (PL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Developmental Neuroscience
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1159/000541908
- Citations
- 7
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.85