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
41139958 (PubMed )
Supplement: mmc1.pdf
Genetic analysis of a child with SATB2‑associated syndrome and literature study.
Liu Q et al.
Experimental and Therapeutic Medicine, 2023
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
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM3_ESM.xlsx › LancetAnalysis
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Zarate YA et al.
Clinical Genetics, 2017
A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
Schwartz E et al.
American Journal of Medical Genetics. Part A, 2017
SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2017
SATB2-associated syndrome presenting with Rett-like phenotypes.
Lee JS et al.
Clinical Genetics, 2016
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2015
Further delineation of the SATB2 phenotype.
Döcker D et al.
European Journal of Human Genetics : Ejhg, 2014
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Rainger JK et al.
Human Molecular Genetics, 2014
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
Leoyklang P et al.
Human Genetics, 2013
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A et al.
Lancet (london, England), 2012
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