Associated Papers
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.
den Hoed J et al.
Hgg Advances, 2026
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome.
Pullano V et al.
Genes, 2025
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.
Ukita N et al.
American Journal of Medical Genetics. Part A, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.
Ganesan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.
Jeong R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Current insights on the genetics and mechanisms of MSX1-associated cleft palate.
Myo AC et al.
Frontiers in Dental Medicine, 2025
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
Zarate YA et al.
Human Mutation, 2023
40225157 (PubMed )
Supplement: 8200176.f1.zip › Supplementary_File.pdf
The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review.
Li X et al.
Bmc Oral Health, 2022
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Lewis H et al.
Pediatric Neurology, 2020
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
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Bengani H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Behjati S et al.
Nature Genetics, 2014
24633157 (PubMed )
Supplement: NIHMS57096-supplement-3.xlsx › SuppTable2
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