Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
39846592 (PubMed )
Supplement: IJNS-11-00006-s001.zip › IJNS-3344349-supplementary.pdf
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
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.
Essadssi S et al.
Journal of Immunology Research, 2019
31781678 (PubMed )
Supplement: 5902391.f1.pdf
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
21898656 (PubMed )
Supplement: supplement_1.pdf
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
Hershfield MS
Current Opinion in Immunology, 2003
Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Cartegni L et al.
Nature Reviews. Genetics, 2002
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX et al.
Nature Genetics, 2001
The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency.
Richard E et al.
The Journal of Experimental Medicine, 2000
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX et al.
American Journal of Human Genetics, 1998
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
Jiang C et al.
Human Molecular Genetics, 1997
Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes.
Hirschhorn R et al.
Human Genetics, 1997
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