Associated Papers
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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.
Gonzalez A et al.
Structure (london, England : 1993), 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
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 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
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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Bain type of X-linked syndromic mental retardation in boys.
Harmsen S et al.
Clinical Genetics, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Pilch J et al.
Clinical Genetics, 2018
Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis.
Braun S et al.
Nature Communications, 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