Associated Papers
HNRNPH2 variant linked to intellectual disability disrupts myelination by impairing oligodendrocyte differentiation.
Jiao Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Preclinical evaluation of antisense oligonucleotide therapy in a mouse model of HNRNPH2-related neurodevelopmental disorder.
Korff A et al.
Biorxiv : the Preprint Server for Biology, 2025
A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.
Gonzalez A et al.
Structure (london, England : 1993), 2023
Defective recognition of a nonclassical nuclear localization signal in neurodevelopmental disorders.
Matsuura Y
Structure (london, England : 1993), 2023
hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders.
Kelvington BA et al.
The Journal of Clinical Investigation, 2023
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
A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.
Gonzalez A et al.
Biorxiv : the Preprint Server for Biology, 2023
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Kreienkamp HJ et al.
Human Genetics, 2022
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Salazar R et al.
Research in Developmental Disabilities, 2021
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
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Somashekar PH 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
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J et al.
Clinical Genetics, 2018
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM et al.
American Journal of Human Genetics, 2016
The HNRNPF/H RNA binding proteins and disease.
Brownmiller T et al.
Wiley Interdisciplinary Reviews. Rna, 0