Associated Papers
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 2025
41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.
Pomarino D et al.
Global Medical Genetics, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › Ours_RNA
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.
Inal-Gültekin G et al.
Neuromuscular Disorders : Nmd, 2017
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