Associated Papers
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
[Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report].
Mondesert E et al.
Annales De Biologie Clinique, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R et al.
Nature Genetics, 2017
28416821 (PubMed )
Supplement: NIHMS861030-supplement-4.pdf
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.
Mohamed S et al.
Pediatrics and Neonatology, 2015
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Human Mutation, 2013
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
Kaler SG et al.
Annals of Neurology, 2009
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography.
Watanabe A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2005
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Gu YH et al.
American Journal of Medical Genetics, 2001
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX et al.
Nature Genetics, 2001
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