Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Libonati L et al.
Journal of Neurology, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM13_ESM.xlsx › Sup._T10_-_LOF_GL_Exomes
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