Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
Yi S et al.
Journal of Molecular Neuroscience : Mn, 2022
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot.
Sun H et al.
Bmc Medical Genomics, 2022
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
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
Application of next-generation sequencing for the diagnosis of fetuses with congenital heart defects.
Qiao F et al.
Current Opinion in Obstetrics & Gynecology, 2019
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Carss KJ et al.
Human Molecular Genetics, 2014
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