Balasubramanian M. HNRNPU-Related Neurodevelopmental Disorder. 2022 Mar 10. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 35274911.
Hodgson AKO, et al. Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review. Am J Med Genet A. 2025 Jun;197(6):e64013. PMID: 39976380.
Lee S, et al. Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. Eur J Hum Genet. 2023 Sep;31(9):1040-1047. PMID: 37407733.
Taylor J, et al. Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. Am J Med Genet A. 2022 May;188(5):1497-1514. PMID: 35138025.
Rooney K, et al. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. Genet Med. 2023 Aug;25(8):100871. PMID: 37120726.
Gillentine MA, et al. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 Apr 19;13(1):63. PMID: 33874999.
Durkin A, et al. Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review. Am J Med Genet A. 2020 Jul;182(7):1637-1654. PMID: 32319732.
Yates TM, et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A. 2017 Nov;173(11):3003-3012. PMID: 28944577.
Bramswig NC, et al. Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum Genet. 2017 Jul;136(7):821-834. PMID: 28393272.
Epi4K Consortium, et al. De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. PMID: 23934111.
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