Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.
Abreu M et al.
Frontiers in Genetics, 2023
Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.
Quental R et al.
Molecular Syndromology, 2022
Neurodevelopmental profile of HIVEP2-related disorder.
Mo A et al.
Developmental Medicine and Child Neurology, 2022
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S et al.
Journal of Human Genetics, 2021
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Park J et al.
Molecular Syndromology, 2019
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Steinfeld H et al.
Neurogenetics, 2016
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Srivastava S et al.
European Journal of Human Genetics : Ejhg, 2016
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