Associated Papers
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_5.XLSX › Supplementary_Table_5
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Mir A et al.
Molecular Genetics & Genomic Medicine, 2023
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB et al.
Clinical Genetics, 2022
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
Kamal N et al.
European Journal of Medical Genetics, 2022
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
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