Associated Papers
Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family.
He Y et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
Vilela J et al.
Frontiers in Molecular Neuroscience, 2022
36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
Genome-wide characteristics of de novo mutations in autism.
Yuen RK et al.
Npj Genomic Medicine, 2016
27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
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