Associated Papers
Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation.
Chen G et al.
Cells, 2025
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
Korff A et al.
The Journal of Clinical Investigation, 2023
Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
Gonzalez JN et al.
Genes, 2023
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Kreienkamp HJ et al.
Human Genetics, 2022
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
Bain JM et al.
Neurology. Genetics, 2021
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC et al.
Clinical Genetics, 2020
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
Peron A et al.
American Journal of Medical Genetics. Part A, 2020
Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
Jepsen WM et al.
Clinical Genetics, 2019
The HNRNPF/H RNA binding proteins and disease.
Brownmiller T et al.
Wiley Interdisciplinary Reviews. Rna, 0
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