Associated Papers
Genetic analysis of a child with SATB2‑associated syndrome and literature study.
Liu Q et al.
Experimental and Therapeutic Medicine, 2023
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
X-CAP improves pathogenicity prediction of stopgain variants.
Rastogi R et al.
Genome Medicine, 2022
Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.
Snijders Blok L et al.
Genes, Brain, and Behavior, 2021
34241948 (PubMed )
Supplement: GBB-20-0-s001.xlsx › Supplementary_table_paper
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
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Zarate YA et al.
Clinical Genetics, 2017
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
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
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