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
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Genomic insights into Rett syndrome-like features in Bangladeshi participants.
Akter H et al.
Genetics in Medicine Open, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
Bartolomaeus T et al.
European Journal of Human Genetics : Ejhg, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
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
A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.
White-Brown AM et al.
American Journal of Medical Genetics. Part A, 2022
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Kreienkamp HJ et al.
Human Genetics, 2022
Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons.
Larizza L et al.
Neural Regeneration Research, 2022
Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.
Ma X et al.
Stem Cell Research, 2021
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Salazar R et al.
Research in Developmental Disabilities, 2021
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ et al.
Journal of Intellectual Disability Research : Jidr, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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