Literatur:
- Varianten in HNRNPH2auf dem X-Chromosom werden mit einer neurologischen Entwicklungsstörung bei Frauen in Verbindung gebracht Originalforschungsartikel von J.M. Bain et al. (2016) Lesen Sie die Zusammenfassung hier und die Zusammenfassung von Simons Searchlight hier.
- Bain, J. M., Thornburg, O., Pan, C., Rome-Martin, D., Boyle, L., Fan, X., … & Chung, W. K. (2021). Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurology Genetics, 7(1). ○ Salazar, R., Beenders, S., Thornburg, O., LaMarca, N., & Bain, J. (2020). The Pediatric Evaluation of Disability Inventory Computer Adaptive Test in Individuals with HNRNPH2-Related Disorders (4177).
- Salazar, R., Beenders, S., Thornburg, O., LaMarca, N., & Bain, J. (2020). The Pediatric Evaluation of Disability Inventory Computer Adaptive Test in Individuals with HNRNPH2-Related Disorders (4177).
- Rome-Martin, D., Thornburg, O., & Bain, J. (2020). Evaluating the Use of OT Assessments in Individuals With the Ultra Rare Disease HNRNPH2 Gene Variant. American Journal of Occupational Therapy, 74(4_Supplement_1), 7411500032p1-7411500032p1.
- Duong, T. T., Goldman, S., Zhang, H., Salazar, R., Beenders, S., Cornett, K. M., … & Zanotto, D. Validation of Insole based Gait Analysis System in Young Children with a Neurodevelopmental Disorder and Autism Traits. In 2020 8th IEEE RAS/EMBS International Conference for Biomedical Robotics and Biomechatronics (BioRob) (pp. 715-720). IEEE.
- Salazar R, Beenders S, LaMarca N, Thornburg O, Bain J. Motor Function of Individuals with HNRNPH2-related Disorders. Poster session presented at: American Academy of Neurology Annual Meeting; 2019 May 4-10; Philadelphia, PA