Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
37296477 (PubMed )
Supplement: 12920_2023_1562_MOESM3_ESM.xlsx › Stage2-Class4-5_variants
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis.
Li Q et al.
Kidney International, 2021
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
O'Connor E et al.
Brain : a Journal of Neurology, 2016
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